AiPD: Autoinhibited Protein Database

P16157

Gene name	ANK1 (ANK)
Protein name	Ankyrin-1
Names	ANK-1 , Ankyrin-R , Erythrocyte ankyrin
Species	Homo sapiens (Human)
KEGG Pathway	hsa:286
EC number
Protein Class	ANKYRIN REPEAT AND PROTEIN KINASE DOMAIN-CONTAINING PROTEIN (PTHR24198)

Descriptions

Ankyrin-R (AnkR) is a scaffold protein involved in connecting various ion channels and cell adhesion molecules to the spectrin-based cytoskeleton. It plays essential roles in maintaining plasma membrane integrity and coordinating physiological activities in the nervous and cardiovascular systems. AnkR undergoes autoinhibition through a 48-residue autoinhibitory segment within its C-terminal regulatory domain, which binds to the N-terminal ankyrin repeat (ANK) domain, preventing interactions with membrane targets. This autoinhibition is relieved by LF mutation in site-3 that releases the autoinhibitory segment from the ANK repeats, allowing AnkR to bind to its targets.

Autoinhibitory domains (AIDs)

Target domain	7-827 (ANK domain)
Relief mechanism
Assay	Structural analysis, Split protein assay, Mutagenesis experiment

AID

1577-1624 (autoinhibitory segment)

Target domain

7-827 (ANK domain)

Relief mechanism

Assay

Structural analysis, Split protein assay, Mutagenesis experiment

Accessory elements

No accessory elements

References

Wang C et al. (2014) "Structural basis of diverse membrane target recognitions by ankyrins", eLife, 3,

Autoinhibited structure

Activated structure

22 structures for P16157

Entry ID	Method	Resolution	Chain	Position	Source
1N11	X-ray	270 A	A	402-827	PDB
2YQF	NMR	-	A	1394-1497	PDB
2YVI	X-ray	192 A	A	1394-1497	PDB
3F59	X-ray	200 A	A/B/C/D	911-1068	PDB
3KBT	X-ray	275 A	C/D	911-1068	PDB
3KBU	X-ray	275 A	C/D	911-1068	PDB
3UD1	X-ray	200 A	A/B/C	911-1233	PDB
3UD2	X-ray	221 A	A/B/C	911-1233	PDB
7TW3	EM	440 A	G	1-1881	PDB
7TW5	EM	570 A	G/H	1-1881	PDB
7TW6	EM	560 A	G	1-1881	PDB
7UZQ	EM	217 A	J	1-201	PDB
7UZU	EM	230 A	A	1-1881	PDB
7V0K	EM	240 A	H	1-1881	PDB
7V0M	EM	270 A	A	1-1881	PDB
7V0S	EM	250 A	J	1-1881	PDB
7V0X	EM	300 A	J	1-1881	PDB
8CS9	EM	274 A	A	1-1881	PDB
8CSL	EM	2500 A	A	1-1881	PDB
8CSV	EM	270 A	A	1-1881	PDB
8CTE	EM	290 A	A	1-1881	PDB
AF-P16157-F1	Predicted				AlphaFoldDB

2022 variants for P16157

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1554627073 RCV000655900 CA371053195	1	M>V	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV001000898 rs1586505238	115	L>P	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2150661855 RCV001803571	119	A>G	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2150661824 RCV001728102	128	K>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
rs2150661792 RCV001802573	137	Q>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001163455 rs201024919 RCV001002597	167	G>R	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA212748 RCV000000543 rs786205244	174	L>missing	Spherocytosis, type 1, autosomal recessive [ClinVar]	Yes	ClinGen ClinVar dbSNP
rs1554578304 CA658797090 RCV000655901	178	H>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV000325358 CA10625454 rs886062943 RCV001163451	206	G>E	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001161931 CA10631084 rs886062942 RCV000289107	217	E>K	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000253299 rs61735313 RCV001161930 CA4728910 RCV001001521 RCV002058303	218	N>K	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs778503475 CA10625450 RCV000324228	235	T>K	Spherocytosis, Dominant [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001158718 RCV001158719 rs761960519	241	T>M	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001785923 rs2150652933	242	P>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001286891 rs770333748	253	I>S	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
VAR_054991	276	L>R	SPH1 [UniProt]	Yes	UniProt
RCV001289706 rs1829714663	277	H>P	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001287819 RCV001508247 rs1829712320	281	R>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001165447 rs1829705168 RCV001165446	292	L>P	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001802467 rs2150644664	311	M>V	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
TCGA novel rs1036457270 RCV001785928	312	A>E	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA TOPMed dbSNP
rs760321571 RCV001802325	316	D>G	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs183864227 RCV001163346 RCV001163347 RCV000755813	322	R>L	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001163345 RCV000367166 rs746138074 CA10627842	329	A>S	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs147608206 RCV001163344 RCV002067984 RCV002252320	333	D>N	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4728761 RCV001161828 RCV000312238 rs375151253	352	R>S	Hereditary spherocytosis type 1 [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs199832220 RCV001332122 RCV003346479	356	V>I	Hereditary spherocytosis type 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001161827 rs779654741 RCV001161826	373	T>S	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001803633 rs2150641057	375	L>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001802572 rs2150641017	379	C>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
rs142626656 RCV003447570 RCV001161824 RCV001869418 RCV001000394	385	R>C	Hereditary spherocytosis type 1 Immunodeficiency 62 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001508244 RCV001158607 rs563833117 CA4728712 RCV000351772	393	T>M	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1024028123 RCV001252749	420	V>M	Microcephaly [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs768063027 RCV001802321	422	N>I	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM1597701 rs776721065 RCV001002212 COSM1099882	426	R>Q	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002523682 rs770353869 CA4728670 RCV000346156	429	S>L	Variant assessed as Somatic; MODERATE impact. Spherocytosis, Dominant Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001165326 rs142010751 RCV000376292 CA4728649 RCV000913010	446	R>T	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000893197 rs140085544 VAR_000596 RCV001163232	463	V>I	Hereditary spherocytosis type 1 SPH1 [ClinVar, UniProt]	Yes	ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA4728622 RCV001163228 RCV000380462 rs150655828 RCV003298414	472	T>I	Hereditary spherocytosis type 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2150635518 RCV001534606	478	A>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
rs201980785 RCV001161706 RCV001161707	481	G>S	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2150635459 RCV001785932	484	N>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000883267 RCV001804043 rs143839208	495	N>H	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001161705 CA4728601 RCV000911518 RCV000241940 RCV001161704 rs142690258	495	N>S	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4728600 RCV000316613 rs138685137 RCV001161703	496	P>S	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA114345 RCV003415605 rs397514029 RCV000000540	507	L>missing	Hereditary spherocytosis type 1 ANK1-related condition [ClinVar]	Yes	ClinGen ClinVar dbSNP
COSM1457106 COSM1457105 RCV001158492 RCV001158493 rs371259018	512	R>H	Hereditary spherocytosis type 1 large_intestine [ClinVar, Cosmic]	Yes	cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000273925 rs369233964 CA4728545 RCV001165204	543	A>V	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4728534 RCV001165201 RCV000369015 rs577967149	558	R>Q	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1827218179 RCV001332123	565	A>S	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001250152 rs1826989524 RCV001508240	573	L>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001289661 rs754903343	591	R>G	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001785926 rs2150631832	594	S>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_000597 rs2304877 RCV000363206 RCV001706357 RCV001163124 RCV000244163 CA4728443	619	R>H	Hereditary spherocytosis type 1 Brueggen [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs750068521 RCV002261295 RCV001163123	620	S>N	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001286066 rs1825406258	631	E>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001785933 rs749423708	632	S>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000415020 RCV001197413 CA16043433 rs1057518790	650	M>V	Hereditary spherocytosis type 1 Anemia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs2150616506 RCV001728106	669	L>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV000755817 rs1563502820	677	Q>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA4728371 RCV000348030 rs150032875 RCV001161595	699	R>Q	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001803645 rs2150612978	701	G>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001728107 rs2150612966	702	Y>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
rs139375455 RCV000903376 RCV001804071	711	Y>C	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001286935 rs747701761	722	Q>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV000393953 CA4728345 rs150899388 RCV001161593 RCV000963224 RCV002524563	723	H>N	Hereditary spherocytosis type 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001289697 rs1823867456	753	L>P	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs2150605957 RCV001728108	798	V>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002541152 rs2150605978 RCV001783502	799	S>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
VAR_061012 RCV000224849 CA4728201 RCV001165099 rs34523608 RCV000385550	832	R>Q	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001286202 rs776018872	836	D>E	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001163013 RCV001163012 rs141069023	905	V>M	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2150597126 RCV001785931	923	G>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001802420 RCV001869471 rs2150597061	935	R>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001803508 rs1586181590	937	V>A	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001161489 rs35797405 RCV001161490 RCV000897766	944	A>T	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001285219 rs770345014	967	E>K	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1820556702 RCV001286927	991	V>G	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs753931863 RCV001160077 RCV001160076	994	P>L	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar TOPMed dbSNP
COSM1182745 RCV002558514 RCV001160072 COSM1182744 rs144724635 RCV001160073	1001	R>H	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2150594434 RCV001728109	1020	H>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
rs1820512673 RCV001287319	1031	Q>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001785929 RCV003416450 RCV001885175 rs2150593517	1053	R>*	Hereditary spherocytosis type 1 ANK1-related condition [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_054992	1054	I>T	SPH1 [UniProt]	Yes	UniProt
RCV001802337 COSM3929573 COSM3929574 rs267601925 RCV002541361	1060	P>L	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP
COSM3649216 rs763961763 COSM3649215 RCV001728110	1068	R>Q	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001289694 rs1820329178	1068	R>W	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA4727941 RCV001001485 RCV000967845 RCV000245152 rs35213384 VAR_048263	1075	T>I	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001000374 rs200263785	1077	G>R	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001728111 rs2150593284	1090	L>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV002227334 rs2150593275	1092	Q>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
rs147741842 COSM188190 RCV002227345	1100	V>I	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic]	Yes	cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2150593157 RCV002269806	1109	Q>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA4727878 rs771237247 RCV001161364 RCV000304415	1148	R>Q	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001161362 RCV001161363 COSM3925306 COSM3925307 rs747027965	1157	D>N	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA10631080 rs767553149 RCV000339281	1171	R>L	Spherocytosis, Dominant [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1586145051 RCV001002400	1185	W>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001286123 rs139513895	1201	A>T	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD
RCV000755811 RCV003133585 rs1586144223	1208	S>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
rs758602146 RCV001164866 RCV001164867	1218	R>Q	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000344876 CA4727804 RCV001164868 RCV000415950 rs142542271	1218	R>W	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000879225 rs185516533 RCV001164865 RCV001164864	1223	V>A	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001164862 rs765958291 RCV001164863	1237	P>T	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1819636555 RCV001285077	1239	M>I	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs777970142 RCV001001053	1257	R>H	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs2150589601 RCV001728103	1259	Y>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001162798 rs148942046 RCV001815502 RCV001162797	1277	V>M	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2150589472 RCV001728104	1284	D>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
rs2150586181 RCV001785927	1310	Q>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV003363125 RCV001162796 rs753586006 RCV001162795	1314	H>P	Hereditary spherocytosis type 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001162793 RCV001162794 RCV002558554 COSM1099865 RCV002559556 COSM1597715 rs113948846	1319	R>W	Hereditary spherocytosis type 1 endometrium Inborn genetic diseases [ClinVar, Cosmic]	Yes	cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001162792 RCV001161251 rs1228458158	1324	A>V	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV002058299 RCV001161250 RCV000242898 RCV000388799 rs10093583 VAR_028772 CA4727729	1325	M>V	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001509336 rs1172677213 RCV001564049	1334	R>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV001159842 rs145562489 RCV001159843 RCV000891399	1341	S>L	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001159841 RCV000261773 rs886062939 CA10631064	1346	A>V	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001029896 rs1586114714	1351	D>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
rs2150585752 RCV001534607	1353	Q>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA4727692 rs764226906 RCV001164759 RCV000305999	1354	H>Y	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001731173 rs538989808	1366	C>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM4382794 RCV001162701 RCV001164753 COSM4382795 rs748160803	1379	P>L	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs750820522 RCV001002482	1385	R>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001162700 RCV000755816 CA4727646 RCV000359380 rs201439151 RCV002523681	1386	Y>H	Hereditary spherocytosis type 1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001002452 rs1586072383 COSM1099863 COSM1597717	1436	R>*	Variant assessed as Somatic; HIGH impact. Hereditary spherocytosis type 1 endometrium [NCI-TCGA, ClinVar, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP
RCV000406426 rs34664882 CA4727588 RCV001161138 RCV002058301 RCV000242980	1462	A>V	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1228535558 RCV002291004 RCV001884612	1472	Q>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001765421 rs376877498 RCV002540371	1474	I>T	Inborn genetic diseases [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2150578454 RCV001823654	1482	M>V	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001002429 RCV000924756 rs141408004	1483	L>R	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002275141 CA175923046 RCV000655899 COSM2961359 rs777701149 COSM2961360	1488	R>*	Variant assessed as Somatic; HIGH impact. Hereditary spherocytosis type 1 [NCI-TCGA, ClinVar]	Yes	ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV002539780 rs1187228917 RCV001728105	1489	Q>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV001509334 rs372878614 RCV003136092	1491	R>H	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA]	Yes	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2150563560 RCV001534605	1514	Y>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
CA4727490 RCV001159737 rs755637526 RCV000352733	1514	Y>S	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs146416859 COSM1582767 RCV002536557 RCV001164662 RCV001159736 COSM1582768	1536	R>C	Hereditary spherocytosis type 1 stomach Inborn genetic diseases [ClinVar, Cosmic]	Yes	cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs767213092 CA10631061 RCV000295632 RCV001164661	1536	R>H	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM454568 RCV000400129 rs1060130 RCV001164660 CA4727472 VAR_028773 COSM1489295	1546	V>I	Hereditary spherocytosis type 1 breast [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000349129 rs372106603 CA4727456	1574	T>M	Spherocytosis, Dominant [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001508612 rs2150563125 RCV003136091	1605	A>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001785935 rs2150563078	1612	G>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
rs774067157 RCV001198178	1619	E>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001162604 rs369796910 CA4727412 RCV000374782	1659	A>V	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs137852829 CA114336 RCV000000535	1669	E>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA10625425 rs886062937 RCV001162603 RCV000317785	1670	V>M	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA4727405 RCV000278155 COSM3395335 RCV001162602 COSM3395334 RCV001861323 rs140231188	1682	R>Q	Hereditary spherocytosis type 1 pancreas [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000755814 rs376601712	1684	T>I	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV003246979 RCV001532615 rs1812685689	1694	E>K	Inborn genetic diseases [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV001808148 rs2150556792	1703	W>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs746486928 RCV002557374 RCV001162599 RCV001161014	1707	G>S	Hereditary spherocytosis type 1 Inborn genetic diseases [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1554522035 RCV000655896 CA371051975	1718	Q>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs137852830 CA114339 RCV000000538	1721	W>*	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
COSM1154997 RCV001161013 RCV001161012 COSM1099855 rs200662932	1726	T>M	Hereditary spherocytosis type 1 Variant assessed as Somatic; MODERATE impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001161011 rs750580242 RCV001161010	1736	S>R	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs2150548107 RCV001802703	1813	E>missing	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar dbSNP
CA114342 RCV001508610 rs137852831 RCV003398399 RCV000000539	1833	R>*	Variant assessed as Somatic; HIGH impact. Hereditary spherocytosis type 1 ANK1-related condition [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000972775 rs114905632 RCV001803179	1864	D>N	Hereditary spherocytosis type 1 [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753171851	2	P>L		No	ExAC TOPMed gnomAD
rs753171851	2	P>R		No	ExAC TOPMed gnomAD
rs755583476	3	Y>C		No	ExAC gnomAD
rs768116652	3	Y>H		No	ExAC TOPMed gnomAD
rs765868859	4	S>A		No	ExAC TOPMed gnomAD
rs762385951	4	S>C		No	ExAC gnomAD
rs765868859	4	S>T		No	ExAC TOPMed gnomAD
rs1848991641	5	V>A		No	Ensembl
rs772857890	8	R>G		No	ExAC gnomAD
rs1848990441	8	R>L		No	gnomAD
COSM4887507	9	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs761571387	9	E>Q		No	ExAC gnomAD
rs1839605628	10	A>T		No	Ensembl
rs1839605088	10	A>V		No	Ensembl
rs374077488	11	D>A		No	ESP ExAC TOPMed gnomAD
rs760389556 RCV001768520	11	D>N		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs374077488	11	D>V		No	ESP ExAC TOPMed gnomAD
rs760389556 COSM367497	11	D>Y	lung [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs773205681	14	T>S		No	ExAC TOPMed gnomAD
rs549924067	16	F>I		No	1000Genomes ExAC gnomAD
COSM1330979 COSM1330980	16	F>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM454576 COSM1489301	18	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1839597012	18	R>K		No	TOPMed
COSM1673879 COSM1673878 rs1839596008	21	R>S	large_intestine [Cosmic]	No	cosmic curated gnomAD
VAR_000595	21	R>T		No	UniProt
COSM422122 COSM1133833	22	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1193613733	23	G>D		No	gnomAD
rs781583026	26	D>G		No	ExAC TOPMed gnomAD
rs1052968472	29	L>V		No	TOPMed
rs1044527685	29	L>W		No	Ensembl
rs867506912	30	D>N		No	Ensembl
TCGA novel	30	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1357749761	31	H>Y		No	gnomAD
rs747402381	33	R>L		No	ExAC TOPMed gnomAD
COSM3834733 COSM3834732 rs747402381	33	R>Q	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1448156749	33	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1326905954	35	G>E		No	gnomAD
TCGA novel	35	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1839581886	36	V>L		No	Ensembl
rs780584867	38	I>V		No	ExAC gnomAD
rs758866739	39	N>K		No	ExAC TOPMed gnomAD
rs1165224432	40	T>S		No	gnomAD
COSM6180921 COSM6180922	41	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM605685 COSM1145074	43	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1134307 COSM454575	46	L>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1832831716	48	G>S		No	TOPMed
rs1832831072	51	L>A		No	Ensembl
rs1832830491	52	A>V		No	Ensembl
rs772504372	53	S>A		No	ExAC TOPMed gnomAD
rs1282696059	55	E>G		No	gnomAD
rs746302563	57	H>R		No	ExAC gnomAD
rs1832827082	59	K>R		No	TOPMed
rs1586565509	62	V>G		No	Ensembl
rs1221815487	62	V>I		No	gnomAD
rs748853178	64	L>F		No	ExAC gnomAD
rs1832823480	66	H>Q		No	gnomAD
rs1832822839	67	K>Q		No	TOPMed
COSM1182748 COSM1182749	68	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1151126 COSM750351	68	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs777382981	70	I>F		No	ExAC gnomAD
rs1400314365	70	I>T		No	gnomAD
COSM1457127 COSM1457128	71	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs767168891	73	T>M		No	ExAC TOPMed gnomAD
rs767168891	73	T>R		No	ExAC TOPMed gnomAD
TCGA novel	75	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2150672986 RCV001508250	75	T>I		No	ClinVar Ensembl dbSNP
TCGA novel	75	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs754819526	75	T>P		No	ExAC gnomAD
rs1246916045	76	K>T		No	TOPMed gnomAD
rs750403697	78	G>R		No	ExAC gnomAD
rs1255282821	80	T>M		No	TOPMed gnomAD
rs2150663223	81	A>S		No	Ensembl
rs1586512319	81	A>V		No	Ensembl
rs1177101299	82	L>V		No	Ensembl
rs759870967	83	H>Y		No	ExAC gnomAD
rs774739263	84	I>V		No	ExAC gnomAD
rs1382031439	85	A>G		No	gnomAD
rs1420298430	86	A>V		No	TOPMed gnomAD
rs2150663162	88	A>V		No	Ensembl
rs1327804280	89	G>R		No	gnomAD
rs1831148191	91	D>G		No	TOPMed
rs780698924	91	D>H		No	ExAC TOPMed gnomAD
COSM3649280 COSM3649279	91	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs780698924	91	D>Y		No	ExAC TOPMed gnomAD
rs367970006	92	E>D		No	ESP ExAC TOPMed gnomAD
rs1441441518	93	V>M		No	TOPMed
rs1831146010	94	V>I		No	TOPMed
rs779941538	95	R>Q		No	ExAC TOPMed gnomAD
rs1162104983	95	R>W		No	gnomAD
rs1019522055	98	V>I		No	TOPMed gnomAD
rs1296340324	99	N>S		No	TOPMed gnomAD
rs1479719238	100	Y>C		No	gnomAD
rs1407585858	102	A>G		No	Ensembl
rs561134856	104	V>I		No	1000Genomes ExAC TOPMed gnomAD
rs544048249	106	A>T		No	Ensembl
rs1293670186	106	A>V		No	gnomAD
rs767602334	107	Q>R		No	ExAC TOPMed gnomAD
TCGA novel	108	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1224927238	108	S>P		No	gnomAD
TCGA novel	110	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2150661875	114	P>T		No	Ensembl
rs766658207	116	Y>C		No	ExAC gnomAD
TCGA novel	116	Y>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
RCV002261855 rs2150661861	117	M>V		No	ClinVar Ensembl dbSNP
RCV001906875 rs2150661848	120	Q>*		No	ClinVar Ensembl dbSNP
rs1722165536	127	V>I		No	gnomAD
COSM1597696 COSM1099887	129	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	133	N>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1336691634	133	N>S		No	TOPMed
rs1188118509	136	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1245165846	137	Q>R		No	TOPMed
rs762329539	139	V>L		No	ExAC gnomAD
rs1830949833	142	E>Q		No	TOPMed
rs1292951644	143	D>H		No	gnomAD
COSM1457125 COSM1457126	149	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1830575933	150	V>I		No	TOPMed
rs780071774	152	L>P		No	ExAC gnomAD
COSM1314056 COSM1314055	157	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs746031478	160	V>F		No	ExAC TOPMed gnomAD
rs746031478	160	V>I		No	ExAC TOPMed gnomAD
rs1426323536	161	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs149965445	161	A>V		No	ESP ExAC TOPMed gnomAD
rs1586492419	162	H>P		No	Ensembl
rs1191006577	162	H>Q		No	TOPMed gnomAD
RCV001508248 rs2150659130	163	L>P		No	ClinVar Ensembl dbSNP
rs756648808	164	I>F		No	ExAC TOPMed gnomAD
rs1179131473	164	I>N		No	gnomAD
rs1179131473	164	I>T		No	gnomAD
rs756648808	164	I>V		No	ExAC TOPMed gnomAD
rs1472051389	165	N>S		No	gnomAD
TCGA novel	166	Y>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs150606173	166	Y>F		No	1000Genomes ExAC TOPMed gnomAD
rs1291624250	167	G>D		No	gnomAD
rs201024919	167	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs1206212336	168	T>A		No	gnomAD
rs1353558073	168	T>I		No	gnomAD
rs1830560668	169	K>E		No	TOPMed gnomAD
rs371255992	169	K>N		No	ESP ExAC TOPMed gnomAD
rs773033370	170	G>A		No	ExAC
rs761694003	172	V>A		No	ExAC gnomAD
rs1437211157	172	V>L		No	TOPMed gnomAD
rs1437211157	172	V>M		No	TOPMed gnomAD
rs368414600	173	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs772184072	173	R>L		No	ExAC TOPMed gnomAD
rs368414600	173	R>S		No	ESP ExAC TOPMed gnomAD
rs745990033	174	L>F		No	ExAC gnomAD
TCGA novel	174	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1156241221	175	P>Q		No	gnomAD
rs1386347317	176	A>G		No	TOPMed gnomAD
TCGA novel	177	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1234211217	178	H>Q		No	TOPMed
rs778234929	178	H>Y		No	ExAC gnomAD
rs1479278167	180	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs753189908	182	R>G		No	ExAC gnomAD
rs781617434	182	R>H		No	ExAC gnomAD
rs781617434	182	R>P		No	ExAC gnomAD
rs754499344	183	N>S		No	ExAC TOPMed gnomAD
rs1265133744	185	D>H		No	TOPMed gnomAD
rs1265133744	185	D>N		No	TOPMed gnomAD
rs1830544315 TCGA novel	186	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1830544315	186	T>R		No	TOPMed gnomAD
COSM3649277 COSM3649278 rs751082142	187	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs751082142	187	R>G		No	ExAC TOPMed gnomAD
rs1830542206	187	R>L		No	TOPMed
rs146346710 CA4728938 RCV000419791	188	T>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2150658876	188	T>P		No	Ensembl
rs960131521	190	A>S		No	Ensembl
TCGA novel	194	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1035624889	194	Q>K		No	Ensembl
rs1178013047	194	Q>R		No	gnomAD
rs1830534528	196	D>H		No	TOPMed
COSM3925323 COSM3925322	196	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1830533385	197	P>R		No	gnomAD
rs761659504	197	P>S		No	ExAC gnomAD
rs1168790968	198	N>S		No	gnomAD
rs1458568878	198	N>Y		No	TOPMed gnomAD
rs768522568	201	V>L		No	ExAC TOPMed gnomAD
rs768522568	201	V>M		No	ExAC TOPMed gnomAD
RCV001291603 rs1830528981	203	S>missing		No	ClinVar dbSNP
rs771063912	203	S>F		No	ExAC gnomAD
rs550448129 COSM1457118 COSM1457117	205	T>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
TCGA novel	205	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs955802520	205	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1162243813	206	G>R		No	gnomAD
rs867670798	208	T>M		No	Ensembl
rs1830185029	210	L>P		No	gnomAD
rs1830184237	211	H>L		No	Ensembl
rs563148165	212	I>V		No	1000Genomes ExAC TOPMed gnomAD
rs775510911	213	A>V		No	ExAC TOPMed gnomAD
COSM1489300 COSM454574	215	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1219245553	216	Y>H		No	gnomAD
rs773555671	220	N>K		No	ExAC TOPMed gnomAD
rs948026077	220	N>S		No	TOPMed gnomAD
COSM3996062 COSM3996063	220	N>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1347748233	221	V>M		No	TOPMed gnomAD
rs1292183193	222	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM6113348 COSM6113349	223	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs375060699	223	Q>H		No	ESP ExAC TOPMed gnomAD
rs1346363723	224	L>F		No	gnomAD
rs776824658	227	N>S		No	ExAC TOPMed gnomAD
rs747420827	228	R>S		No	ExAC gnomAD
rs1481565166	229	G>R		No	gnomAD
rs554602637	230	A>G		No	1000Genomes
rs200597167	231	S>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201000616	232	V>F		No	1000Genomes ESP ExAC TOPMed gnomAD
rs201000616	232	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1830166627	233	N>H		No	TOPMed
rs778503475	235	T>I		No	ExAC TOPMed gnomAD
rs1326485790	236	P>L		No	gnomAD
rs1217258888	236	P>T		No	gnomAD
rs751571915	238	N>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1400283482	238	N>D		No	TOPMed gnomAD
rs150284251	239	G>C		No	ESP ExAC TOPMed gnomAD
rs867799041 COSM2961587 COSM2961586	239	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed
COSM1457115 COSM1457116 rs150284251	239	G>S	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs867799041	239	G>V		No	TOPMed
rs1829878470	241	T>A		No	gnomAD
rs1447565568	242	P>S		No	TOPMed gnomAD
COSM3900224 COSM3900223	245	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1445952603 COSM1552660 COSM294114	246	A>T	lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs764420355	248	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs760928262 COSM3900222 COSM3900221	248	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs760928262	248	R>L		No	ExAC TOPMed gnomAD
rs1253435249 COSM422123 COSM1133832	249	R>K	urinary_tract [Cosmic]	No	cosmic curated gnomAD
rs1829870249	250	G>D		No	Ensembl
rs1203474015	250	G>R		No	gnomAD
TCGA novel	252	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs140138043	252	V>M		No	ESP ExAC TOPMed gnomAD
rs1312148360	253	I>F		No	gnomAD
rs770333748	253	I>T		No	ExAC TOPMed gnomAD
rs748895534	254	M>V		No	ExAC TOPMed gnomAD
rs1341242320	255	V>A		No	gnomAD
TCGA novel	255	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM300271 rs777258799	256	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1163645823	256	R>W		No	TOPMed
rs1586465136	258	L>V		No	Ensembl
COSM3649275 COSM3649276	260	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs781092462	261	R>Q		No	ExAC gnomAD
COSM4896553 rs747776088 COSM265995	261	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
COSM6113350 COSM6113351	262	G>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs754821377	262	G>E		No	ExAC gnomAD
COSM3925317 COSM3925316	263	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs751481179	266	E>A		No	ExAC gnomAD
rs1330884320	267	T>A		No	TOPMed gnomAD
rs977441473	268	K>Q		No	Ensembl
rs1253531683	268	K>R		No	gnomAD
rs1563565472	272	E>G		No	Ensembl
rs376057905 COSM3432437 COSM273969	272	E>K	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745826941	274	T>I		No	ExAC gnomAD
rs1324617623	275	P>R		No	gnomAD
COSM69635	275	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1235148893	278	C>R		No	gnomAD
rs777845119	278	C>S		No	ExAC gnomAD
rs1829712881	280	A>T		No	Ensembl
COSM1182761 rs752903517 COSM1182760	281	R>L	large_intestine [Cosmic]	No	cosmic curated ExAC gnomAD
rs752903517	281	R>Q		No	ExAC gnomAD
rs765748764	284	H>R		No	ExAC TOPMed gnomAD
rs377658590	285	V>L		No	ESP ExAC TOPMed gnomAD
rs377658590 COSM1597698 COSM1099885	285	V>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs2150651762 RCV001942222	286	R>*		No	ClinVar Ensembl dbSNP
rs527509245 COSM1700041 COSM1700042	286	R>Q	skin [Cosmic]	No	cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs761463161	287	I>M		No	ExAC TOPMed gnomAD
rs746685532	294	H>D		No	ExAC gnomAD
rs746685532	294	H>N		No	ExAC gnomAD
rs772774512	295	G>R		No	ExAC TOPMed gnomAD
COSM6113353 COSM6113352	295	G>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs992731033	296	A>T		No	Ensembl
rs1054769924	297	P>A		No	Ensembl
rs1461891323	300	A>T		No	TOPMed gnomAD
rs1829698243	302	T>I		No	TOPMed gnomAD
rs1381206844	303	K>R		No	TOPMed gnomAD
RCV001508245 rs2150644706	304	N>missing		No	ClinVar dbSNP
COSM1597699 rs750789310 COSM1099884	305	G>S	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs1828795565	305	G>V		No	TOPMed
rs369799162	307	S>Y		No	ESP ExAC gnomAD
rs754404246	309	I>F		No	ExAC TOPMed gnomAD
rs754404246	309	I>V		No	ExAC TOPMed gnomAD
TCGA novel	310	H>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1036457270	312	A>V		No	TOPMed
rs2150644636 TCGA novel	313	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Ensembl
COSM3996061 COSM3996060	315	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1423883696	316	D>E		No	TOPMed gnomAD
rs1447473933	316	D>N		No	TOPMed gnomAD
rs1828788578	317	H>D		No	gnomAD
rs1828788578	317	H>Y		No	gnomAD
rs745634616	319	D>A		No	ExAC TOPMed gnomAD
rs767117624	319	D>N		No	ExAC gnomAD
rs773968722	320	C>Y		No	ExAC gnomAD
rs183864227	322	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM3649270 COSM3649269 rs770743762	322	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1828781849	323	L>F		No	TOPMed
rs1322318125	326	Q>E		No	gnomAD
rs747120612	326	Q>L		No	ExAC gnomAD
rs199722411	327	Y>H		No	1000Genomes ExAC gnomAD
rs1466223186	328	D>N		No	TOPMed gnomAD
rs1466223186	328	D>Y		No	TOPMed gnomAD
rs779357098	329	A>G		No	ExAC gnomAD
rs746138074 COSM4661551 COSM4661552	329	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1828772820	330	E>D		No	Ensembl
rs1828773354	330	E>Q		No	TOPMed gnomAD
rs1828772233	331	I>V		No	TOPMed gnomAD
COSM3649268 COSM3649267	332	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
VAR_035605	332	D>H	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs755620131	333	D>G		No	ExAC TOPMed gnomAD
rs147608206	333	D>Y		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1292369595	336	L>P		No	gnomAD
rs1161616656	337	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1275719069	337	D>Y		No	TOPMed gnomAD
COSM1330981 COSM1330982	341	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM6113354 COSM6113355	341	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4661550 COSM4661549	344	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1483318340	346	A>S		No	TOPMed
rs1828761369	350	H>Q		No	Ensembl
rs762791251	352	R>G		No	ExAC TOPMed gnomAD
rs1488728944	352	R>K		No	gnomAD
rs1828757483	353	V>A		No	TOPMed
rs1218684474	353	V>M		No	gnomAD
rs765194907	354	A>G		No	ExAC gnomAD
rs2150644364	354	A>S		No	Ensembl
rs1828755156	355	K>E		No	Ensembl
rs555694301	355	K>R		No	1000Genomes ExAC TOPMed gnomAD
rs772202187	359	D>H		No	ExAC TOPMed gnomAD
rs772202187 COSM3649262 COSM3649261	359	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1432628425	359	D>V		No	TOPMed gnomAD
rs774775507	364	P>H		No	ExAC TOPMed gnomAD
COSM1734522 rs774775507 COSM1734521	364	P>L	pancreas [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs774775507	364	P>R		No	ExAC TOPMed gnomAD
TCGA novel	364	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs771419729	365	N>S		No	ExAC gnomAD
rs771419729	365	N>T		No	ExAC gnomAD
rs749712558	366	S>P		No	ExAC TOPMed gnomAD
rs1828743424	368	A>G		No	Ensembl
rs1828743424	368	A>V		No	Ensembl
rs1389428080	369	L>V		No	gnomAD
rs1182051539	370	N>I		No	gnomAD
COSM1489299 COSM1489298	373	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779654741	373	T>P		No	ExAC TOPMed gnomAD
rs750084267	375	L>F		No	ExAC gnomAD
rs768282536	378	A>T		No	ExAC gnomAD
rs1586412345	382	N>T		No	Ensembl
rs764134028	383	H>D		No	ExAC TOPMed gnomAD
rs764134028	383	H>N		No	ExAC TOPMed gnomAD
rs1364511169	383	H>R		No	gnomAD
rs200898069	384	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs200898069	384	V>L		No	ESP ExAC TOPMed gnomAD
rs763199737	385	R>H		No	ExAC TOPMed gnomAD
rs142626656	385	R>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs931663427	387	M>T		No	TOPMed
rs773497101	387	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs770040612	389	L>V		No	ExAC TOPMed gnomAD
rs1828228675	390	L>P		No	TOPMed
rs563833117	393	T>K		No	1000Genomes ExAC TOPMed gnomAD
rs921681364	394	G>E		No	TOPMed gnomAD
rs1007345979	395	A>T		No	TOPMed
rs376407187	396	S>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs376407187	396	S>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs771588067	397	I>M		No	ExAC gnomAD
rs2150640877	397	I>N		No	1000Genomes
rs1828220347	397	I>V		No	Ensembl
rs745509581	398	D>A		No	ExAC gnomAD
rs1254472582	398	D>H		No	gnomAD
rs1254472582	398	D>N		No	gnomAD
COSM1457109 COSM1457110 rs376581087	399	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs753718191 RCV001508243 COSM366692	399	A>V	lung [Cosmic]	No	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1312303802	400	V>I		No	gnomAD
rs1349506471 COSM5908831 COSM5908832	401	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1828212964	401	T>S		No	TOPMed
rs1350849760 COSM1739486 COSM1739485	402	E>K	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated TOPMed gnomAD
rs1469964319	403	S>P		No	TOPMed gnomAD
rs1828087782	406	T>I		No	gnomAD
rs949182106	407	P>L		No	TOPMed gnomAD
rs1466083761	407	P>S		No	TOPMed
rs1209455129	408	L>I		No	gnomAD
rs572292527	409	H>Q		No	1000Genomes ExAC TOPMed gnomAD
COSM188207 rs1266498510	410	V>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA TOPMed gnomAD
rs1275296910	412	S>Y		No	TOPMed gnomAD
rs149982951	414	M>I		No	ESP TOPMed gnomAD
rs1435221971	418	P>A		No	gnomAD
rs1470450726	418	P>R		No	TOPMed gnomAD
rs139550171	419	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1366854405	419	I>T		No	gnomAD
rs768063027	422	N>T		No	1000Genomes ExAC TOPMed gnomAD
rs776721065	426	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs575994670	426	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA TOPMed gnomAD
rs769735016	428	A>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1246307299	428	A>T		No	gnomAD
rs1015648649	428	A>V		No	TOPMed gnomAD
rs377436685	431	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1412770997	431	N>S		No	gnomAD
rs769707255	432	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs747995769	433	S>F		No	ExAC TOPMed gnomAD
rs1033281536	434	N>S		No	TOPMed gnomAD
rs760254160	435	V>M		No	TOPMed gnomAD
rs1416109187	436	K>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1827871105	436	K>E		No	Ensembl
rs1827871105	436	K>Q		No	Ensembl
rs1827869073	439	T>A		No	TOPMed
rs201135032	440	P>L		No	1000Genomes ExAC TOPMed gnomAD
rs1827868349	440	P>S		No	TOPMed
rs769619019	443	M>L		No	ExAC TOPMed gnomAD
rs769619019 RCV001311331	443	M>V		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1827865223	444	A>S		No	TOPMed gnomAD
rs1586397980	444	A>V		No	Ensembl
rs1182646405	446	R>G		No	TOPMed gnomAD
rs776523256	447	A>G		No	ExAC TOPMed gnomAD
rs375056306	448	G>R		No	ESP ExAC TOPMed gnomAD
rs193232101	450	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs1289306868	451	E>K		No	gnomAD
rs1230662708	452	V>M		No	TOPMed gnomAD
TCGA novel	454	K>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1426654334	457	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1827851989	463	V>A		No	Ensembl
TCGA novel	463	V>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs756288940	464	N>S		No	ExAC TOPMed gnomAD
TCGA novel	467	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs781479938	467	A>P		No	ExAC gnomAD
rs1245613796	468	K>R		No	TOPMed
rs78606390	469	D>A		No	Ensembl
rs1811573827	469	D>E		No	Ensembl
COSM1314054 COSM1314053	470	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
RCV001508241 rs2150635565	471	Q>missing		No	ClinVar dbSNP
rs564056644	472	T>A		No	1000Genomes ExAC TOPMed gnomAD
rs150655828	472	T>N		No	ESP ExAC TOPMed gnomAD
rs1046751152	473	P>A		No	TOPMed gnomAD
rs1827510582	473	P>L		No	TOPMed
rs1046751152	473	P>S		No	TOPMed gnomAD
rs1046751152	473	P>T		No	TOPMed gnomAD
rs748358434	474	L>I		No	ExAC gnomAD
COSM3649260 COSM3649259	475	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1002201175	476	C>R		No	Ensembl
rs1425658146	477	A>V		No	TOPMed gnomAD
rs1248146540	478	A>V		No	gnomAD
rs141945303 COSM1457107 COSM1457108	479	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs751917351	479	R>H		No	ExAC TOPMed gnomAD
rs751917351	479	R>L		No	ExAC TOPMed gnomAD
rs751917351	479	R>P		No	ExAC TOPMed gnomAD
rs141945303	479	R>S		No	ESP ExAC TOPMed gnomAD
TCGA novel	480	I>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1133831 rs544269725 COSM422124	480	I>V	Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	481	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1278839555	482	H>D		No	gnomAD
rs761484945	482	H>L		No	ExAC gnomAD
rs761484945	482	H>P		No	ExAC gnomAD
rs1827494773	484	N>D		No	TOPMed gnomAD
rs1380689423	485	M>I		No	TOPMed gnomAD
rs763706648	485	M>V		No	ExAC gnomAD
rs995842631	486	V>M		No	TOPMed gnomAD
rs760400901	488	L>I		No	ExAC TOPMed gnomAD
rs760400901	488	L>V		No	ExAC TOPMed gnomAD
rs1827486596	489	L>V		No	TOPMed
COSM3925315 COSM3925314	491	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
RCV000755815 COSM1155002 rs190256257 COSM1099880	494	A>T	endometrium [Cosmic]	No	cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1324166375	494	A>V		No	TOPMed gnomAD
TCGA novel	495	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs142690258	495	N>T		No	1000Genomes ESP ExAC TOPMed gnomAD
rs138685137	496	P>A		No	ESP ExAC TOPMed gnomAD
rs1426296306	496	P>L		No	TOPMed gnomAD
rs1426296306	496	P>R		No	TOPMed gnomAD
rs1586385304	497	N>T		No	Ensembl
rs1368878808	499	A>S		No	gnomAD
rs758845076	502	A>S		No	ExAC TOPMed gnomAD
rs758845076	502	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs377644428	503	G>A		No	ESP ExAC TOPMed gnomAD
rs779607492	503	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1225377188	504	H>L		No	gnomAD
rs1225377188	504	H>P		No	gnomAD
rs1424550780	505	T>I		No	TOPMed gnomAD
rs1313685270	505	T>P		No	gnomAD
rs755655851	506	P>A		No	ExAC gnomAD
rs752408209	506	P>L		No	ExAC gnomAD
COSM4661548 COSM4661547	507	L>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1174784933	508	H>N		No	TOPMed gnomAD
rs2150635238	508	H>R		No	Ensembl
rs992317457	509	I>F		No	gnomAD
rs960901937	509	I>T		No	TOPMed
rs886662059	510	A>V		No	TOPMed gnomAD
COSM3900213 rs369968960 COSM3900214	512	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs369968960	512	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
rs371259018	512	R>P		No	1000Genomes ExAC TOPMed gnomAD
rs199975878	514	G>C		No	ESP ExAC TOPMed gnomAD
rs747138779	514	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs199975878	514	G>S		No	ESP ExAC TOPMed gnomAD
rs1473183275	515	H>Q		No	gnomAD
RCV001870517 rs2150635175	517	E>*		No	ClinVar Ensembl dbSNP
rs1254627913	518	T>I		No	gnomAD
TCGA novel	520	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1480334034	520	L>R		No	gnomAD
rs368231311	521	A>D		No	ExAC TOPMed gnomAD
rs368231311	521	A>G		No	ExAC TOPMed gnomAD
rs1028088529	521	A>P		No	TOPMed gnomAD
rs1028088529	521	A>T		No	TOPMed gnomAD
COSM387891 COSM1700038 rs368231311	521	A>V	lung skin [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
COSM3649258 COSM3649257 rs375850314	522	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1312544691	524	E>G		No	Ensembl
rs1232487321	524	E>K		No	gnomAD
TCGA novel	526	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs757803333	527	A>V		No	ExAC gnomAD
rs749807561	529	Q>H		No	ExAC TOPMed gnomAD
rs1827431543	530	A>T		No	TOPMed
rs1395128545	530	A>V		No	gnomAD
RCV002261854 rs1462634026	531	C>F		No	ClinVar TOPMed dbSNP gnomAD
rs767195976	532	M>I		No	ExAC gnomAD
rs752289346	532	M>L		No	ExAC TOPMed gnomAD
rs752289346	532	M>V		No	ExAC TOPMed gnomAD
rs1399054520	536	G>E		No	TOPMed gnomAD
rs1236460261	536	G>R		No	gnomAD
rs541654069	538	T>I		No	1000Genomes ExAC gnomAD
rs1435287337	539	P>S		No	gnomAD
COSM268655	540	L>S	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1403414572	542	V>E		No	gnomAD
rs761680879	542	V>L		No	ExAC TOPMed gnomAD
rs761680879	542	V>M		No	ExAC TOPMed gnomAD
rs1466008916	544	A>V		No	gnomAD
rs774773483	545	K>R		No	ExAC gnomAD
rs773568299	547	G>A		No	ExAC gnomAD
rs773568299	547	G>E		No	ExAC gnomAD
rs763416868	547	G>R		No	ExAC TOPMed gnomAD
rs1586376373	549	V>G		No	Ensembl
rs140347875	550	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs140347875	550	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs572677389	550	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs780613780	552	A>S		No	ExAC gnomAD
rs1827231890	553	E>K		No	TOPMed
rs1827229891	554	L>R		No	TOPMed
COSM6113356 COSM6113357	556	L>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs180968218	558	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs758094236	559	D>E		No	ExAC TOPMed gnomAD
rs1198471684	560	A>G		No	gnomAD
rs911913735	560	A>S		No	TOPMed gnomAD
rs911913735	560	A>T		No	TOPMed gnomAD
rs757155835	561	H>R		No	ExAC gnomAD
rs778606367	561	H>Y		No	ExAC gnomAD
rs767693050	562	P>L		No	ExAC TOPMed gnomAD
rs767693050	562	P>R		No	ExAC TOPMed gnomAD
COSM4896901 COSM4896902	562	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1827219642	563	N>D		No	TOPMed gnomAD
rs1827218783	563	N>S		No	Ensembl
COSM3649254 COSM3649253	566	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3834726 rs751802569 COSM3834727	566	G>R	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	568	N>M	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1225914262	572	P>L		No	gnomAD
rs1826991474	572	P>S		No	TOPMed
rs151219976	575	V>L		No	ESP ExAC TOPMed gnomAD
rs151219976 COSM1182740 COSM1182741	575	V>M	large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs375918344	577	V>F		No	ExAC TOPMed gnomAD
rs375918344	577	V>I		No	ExAC TOPMed gnomAD
rs764631899	578	H>R		No	ExAC gnomAD
COSM3649251 COSM3649252	578	H>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1826982830	581	N>I		No	Ensembl
rs2150632026	582	L>P		No	Ensembl
rs761203738	582	L>V		No	ExAC TOPMed gnomAD
rs1826981522	583	D>Y		No	TOPMed gnomAD
rs565147024	584	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs775001475	584	I>V		No	ExAC TOPMed gnomAD
COSM5767381 rs745525088 COSM5767380	585	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs745525088	585	V>L		No	ExAC gnomAD
rs1242986456	586	K>T		No	gnomAD
rs1315606253	587	L>R		No	gnomAD
rs1409099326	589	L>F		No	gnomAD
rs770728790	589	L>P		No	ExAC gnomAD
rs749145574	590	P>L		No	ExAC gnomAD
rs1826971408	590	P>T		No	Ensembl
TCGA novel	591	R>G	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs201459848	591	R>L		No	ESP ExAC TOPMed gnomAD
rs201459848	591	R>Q		No	ESP ExAC TOPMed gnomAD
rs754903343	591	R>W		No	TOPMed gnomAD
COSM6113358 COSM6113359	592	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs756073692	592	G>V		No	ExAC gnomAD
rs865865807	593	G>D		No	Ensembl
rs748099893	593	G>S		No	ExAC gnomAD
rs780120594	594	S>C		No	ExAC gnomAD
rs375429085	595	P>L		No	ESP ExAC TOPMed gnomAD
COSM3649250 COSM3649249	595	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs887618823	596	H>R		No	TOPMed gnomAD
rs1826960985	597	S>N		No	Ensembl
rs1185219547	597	S>R		No	gnomAD
rs754151135	598	P>R		No	ExAC TOPMed gnomAD
rs757594330	598	P>S		No	ExAC gnomAD
rs779480626	599	A>V		No	Ensembl
rs750995860	601	N>K		No	ExAC gnomAD
rs1825433339	601	N>S		No	TOPMed gnomAD
rs2080437401	602	G>D		No	TOPMed
rs200729696	603	Y>*		No	ExAC TOPMed gnomAD
rs1277285460	603	Y>H		No	gnomAD
rs773053932	604	T>N		No	ExAC TOPMed gnomAD
rs761552248	606	L>F		No	ExAC
TCGA novel	606	L>F	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs768426752	608	I>F		No	ExAC TOPMed gnomAD
rs768426752	608	I>V		No	ExAC TOPMed gnomAD
COSM3413026 COSM87958 rs564238506	609	A>T	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1470326275	609	A>V		No	TOPMed gnomAD
rs771058527	610	A>S		No	ExAC TOPMed gnomAD
rs1463314313	611	K>E		No	TOPMed gnomAD
rs141134967 RCV001508239	613	N>K		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs778011135	613	N>S		No	ExAC TOPMed gnomAD
rs1433554716	615	V>A		No	TOPMed gnomAD
rs1433554716	615	V>G		No	TOPMed gnomAD
rs374808045	615	V>M		No	ESP ExAC TOPMed gnomAD
TCGA novel	616	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs372122833	616	E>V		No	ESP ExAC gnomAD
rs1825415122 TCGA novel COSM188201	618	A>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA gnomAD
rs765970246	619	R>C		No	ExAC TOPMed gnomAD
TCGA novel	619	R>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs750068521	620	S>T		No	ExAC TOPMed gnomAD
rs761547514	622	L>P		No	ExAC gnomAD
TCGA novel	625	G>V	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs760518133	630	A>T		No	ExAC TOPMed gnomAD
COSM5031804 rs1825406258 COSM5031803	631	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs749423708	632	S>L		No	ExAC TOPMed gnomAD
COSM1597702 rs769870526 COSM1099878	637	T>M	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs781351671	638	P>S		No	ExAC TOPMed gnomAD
rs781351671	638	P>T		No	ExAC TOPMed gnomAD
rs1157614746	640	H>R		No	gnomAD
rs755425656	640	H>Y		No	ExAC gnomAD
rs572850860	642	A>T		No	1000Genomes ExAC gnomAD
rs757958920	643	A>T		No	ExAC TOPMed gnomAD
rs2150621717	645	E>K		No	Ensembl
rs1825395781	645	E>V		No	TOPMed
rs1586312775	646	G>S		No	Ensembl
rs749902877	646	G>V		No	ExAC gnomAD
rs764869583	647	H>Q		No	ExAC TOPMed gnomAD
rs1264922695	647	H>Y		No	gnomAD
rs1486126103	648	A>T		No	TOPMed gnomAD
rs559364786	653	L>V		No	1000Genomes TOPMed gnomAD
rs1004854690	654	L>V		No	TOPMed gnomAD
rs760560030	656	S>*		No	ExAC TOPMed gnomAD
rs760560030	656	S>L		No	ExAC TOPMed gnomAD
rs767398317	658	Q>E		No	ExAC TOPMed gnomAD
rs767398317	658	Q>K		No	ExAC TOPMed gnomAD
rs1825383481	659	A>V		No	TOPMed gnomAD
rs759504756	660	N>S		No	1000Genomes ExAC TOPMed gnomAD
rs921218224	661	G>D		No	Ensembl
rs773211248	663	L>V		No	ExAC TOPMed gnomAD
TCGA novel	664	G>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1288037006	664	G>E		No	gnomAD
RCV001508238 rs2150621572	666	K>N		No	ClinVar Ensembl dbSNP
rs775928813	667	S>G		No	ExAC gnomAD
rs182432615	668	G>R		No	1000Genomes ExAC gnomAD
COSM6113360 COSM6113361	668	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1413536083	669	L>P		No	gnomAD
rs2150616491	670	T>S		No	Ensembl
rs374166500	671	P>A		No	ESP ExAC TOPMed gnomAD
rs1427563866	671	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM1700035 COSM1700034 rs374166500	671	P>S	skin [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
RCV001509346 rs2150616471	672	L>missing		No	ClinVar dbSNP
rs1638938250	675	V>A		No	TOPMed
COSM6180924 COSM6180923	675	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1586286850	676	A>V		No	Ensembl
rs777182935	679	G>A		No	ExAC TOPMed gnomAD
COSM1457100 COSM1457101 rs777182935	679	G>D	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM605695 COSM1145064 rs752363656	681	V>I	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754832300	682	P>A		No	ExAC TOPMed gnomAD
rs754832300	682	P>S		No	ExAC TOPMed gnomAD
rs754832300	682	P>T		No	ExAC TOPMed gnomAD
rs1824524807	683	V>A		No	Ensembl
rs751417373	683	V>L		No	ExAC gnomAD
rs1824523212	684	A>E		No	Ensembl
rs1824523959	684	A>T		No	Ensembl
TCGA novel	688	I>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1169929784	690	H>R		No	Ensembl
rs1824519645	691	G>D		No	Ensembl
rs549988759	691	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs760399808	692	V>D		No	Ensembl
COSM3900210 rs561437854 COSM3900209	692	V>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD
rs1235955784	693	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs541679080	693	M>V		No	1000Genomes ExAC gnomAD
rs1197670855	694	V>A		No	gnomAD
rs2150616332	695	D>H		No	Ensembl
COSM3649241 COSM3649242	695	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772536407	696	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1486547831	697	T>I		No	TOPMed
rs760027398	699	R>W		No	ExAC TOPMed gnomAD
rs1563497110	700	M>V		No	Ensembl
rs1823998874	701	G>A		No	TOPMed
TCGA novel	705	L>H	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs763506445	709	S>N		No	ExAC gnomAD
rs1823990862	713	N>S		No	TOPMed
TCGA novel	714	I>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1823989417	714	I>V		No	TOPMed
rs1157558612	715	K>Q		No	gnomAD
rs1369689181	715	K>R		No	gnomAD
TCGA novel	715	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs747701761	722	Q>K		No	ExAC gnomAD
rs779839475	723	H>Q		No	ExAC gnomAD
rs758183962	724	Q>K		No	ExAC
rs745788564	725	A>G		No	ExAC gnomAD
rs1465640101	725	A>P		No	TOPMed
rs779044568	728	N>K		No	ExAC TOPMed gnomAD
rs1823978510	729	A>S		No	Ensembl
COSM1597704 COSM1099876	729	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs757282296	730	K>E		No	ExAC TOPMed gnomAD
rs1211717597	730	K>N		No	gnomAD
rs757282296	730	K>Q		No	ExAC TOPMed gnomAD
VAR_028769 rs11778936	733	L>I		No	UniProt Ensembl dbSNP
rs750743154	734	G>R		No	ExAC gnomAD
rs1823882984	735	Y>H		No	Ensembl
rs375218687	736	S>G		No	Ensembl
rs1464367239	736	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs765589850	736	S>R		No	ExAC gnomAD
TCGA novel	737	P>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2150612150	737	P>S		No	Ensembl
TCGA novel	738	L>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs201492967	742	A>D		No	1000Genomes ExAC gnomAD
rs201492967	742	A>V		No	1000Genomes ExAC gnomAD
rs763653903	745	G>E		No	ExAC TOPMed gnomAD
rs760154204	749	I>V		No	ExAC TOPMed gnomAD
VAR_000598	750	V>A		No	UniProt
COSM3900207 rs775089579 COSM3900208	750	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1414462167	751	T>P		No	TOPMed gnomAD
rs1180261075	752	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs974212820	753	L>I		No	Ensembl
rs774233996	757	G>R		No	ExAC TOPMed gnomAD
rs774233996	757	G>S		No	ExAC TOPMed gnomAD
rs749236684	759	S>F		No	ExAC TOPMed gnomAD
rs749236684	759	S>Y		No	ExAC TOPMed gnomAD
rs1823863458	760	P>R		No	TOPMed
rs777901067	760	P>S		No	ExAC gnomAD
rs1444199868	761	N>D		No	gnomAD
rs1444199868	761	N>H		No	gnomAD
rs376046501	761	N>K		No	ESP ExAC TOPMed gnomAD
rs1823861733	761	N>S		No	Ensembl
rs1459852465	762	E>D		No	gnomAD
rs771469784 RCV001509343	762	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1367211400	763	V>F		No	gnomAD
rs1367211400	763	V>I		No	gnomAD
COSM3649237 COSM3649238 rs758480712	764	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs758480712	764	S>T		No	ExAC TOPMed gnomAD
rs185448932	765	S>L		No	1000Genomes ExAC TOPMed gnomAD
rs1434687406	766	D>G		No	gnomAD
rs779145741	766	D>N		No	ExAC gnomAD
rs1434687406	766	D>V		No	gnomAD
TCGA novel	767	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1052013937	767	G>R		No	Ensembl
rs1586241284	769	T>P		No	Ensembl
rs2150607122 RCV001509342	772	A>T		No	ClinVar Ensembl dbSNP
TCGA novel	774	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs199560931	775	K>N		No	1000Genomes ExAC TOPMed gnomAD
rs778206121	776	R>C		No	ExAC gnomAD
rs183870975	776	R>H		No	1000Genomes ExAC gnomAD
rs183870975	776	R>L		No	1000Genomes ExAC gnomAD
rs192485068	778	G>C		No	1000Genomes
TCGA novel	778	G>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs369132742	780	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	781	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
RCV001912321 rs1822994728	783	T>A		No	ClinVar TOPMed dbSNP
RCV002223650 rs1469797410	784	D>N		No	ClinVar TOPMed dbSNP gnomAD
rs1822991634	785	V>L		No	Ensembl
rs1822987921	789	V>A		No	TOPMed gnomAD
rs1342958599	789	V>F		No	TOPMed gnomAD
rs1296942730	790	T>M		No	gnomAD
rs765091482	791	D>N		No	ExAC gnomAD
rs1174527227	792	E>D		No	gnomAD
rs1822984846	792	E>K		No	Ensembl
rs1464744883	794	S>C		No	TOPMed gnomAD
rs761641847	794	S>N		No	ExAC gnomAD
rs1563486260	795	F>L		No	Ensembl
rs1563486245	795	F>S		No	Ensembl
rs1822980516	796	V>L		No	TOPMed
TCGA novel	796	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM4937942 COSM4937943	797	L>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs201720301	797	L>S		No	ESP ExAC TOPMed gnomAD
rs200082332	799	S>G		No	ExAC TOPMed gnomAD
rs1380184651	799	S>I		No	TOPMed gnomAD
rs200082332	799	S>R		No	ExAC TOPMed gnomAD
COSM3925312 COSM3925313	800	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1256578927	800	D>V		No	gnomAD
rs760610786	801	K>E		No	ExAC TOPMed gnomAD
COSM168363 rs1285981952	803	R>Q	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA gnomAD
rs1242672677	806	F>L		No	gnomAD
rs1006496201	806	F>L		No	TOPMed
TCGA novel	806	F>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1006496201	806	F>V		No	TOPMed
rs771058475	808	E>K		No	ExAC TOPMed gnomAD
COSM1597705 COSM1099875 rs1047932071	809	T>I	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1047932071	809	T>K		No	gnomAD
rs1199876881	810	V>D		No	TOPMed
rs1372324877	810	V>L		No	TOPMed gnomAD
rs1822815291	815	D>V		No	TOPMed
rs1822814587	816	V>I		No	Ensembl
rs1402114340	819	D>E		No	TOPMed gnomAD
rs200790180	821	G>E		No	Ensembl
COSM3675132 COSM3675133	822	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1822094642	822	E>K		No	Ensembl
COSM1099874 COSM1597707	823	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1314195800	825	I>F		No	TOPMed gnomAD
rs1314195800	825	I>L		No	TOPMed gnomAD
rs1314195800	825	I>V		No	TOPMed gnomAD
rs898703463	826	S>G		No	TOPMed gnomAD
rs750446838	828	K>R		No	ExAC gnomAD
rs935696558	829	A>S		No	TOPMed gnomAD
rs375827690	830	E>*		No	TOPMed gnomAD
rs1822087064	830	E>A		No	TOPMed
rs375827690	830	E>K		No	TOPMed gnomAD
rs765242418	831	R>M		No	ExAC TOPMed gnomAD
rs2150602664	831	R>S		No	Ensembl
rs34523608	832	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs762078890	832	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1586214971	833	D>G		No	Ensembl
rs1822080392	834	S>C		No	TOPMed
TCGA novel	834	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1822079749	835	R>K		No	Ensembl
rs1217526373	836	D>V		No	TOPMed gnomAD
rs1260999396	836	D>Y		No	TOPMed gnomAD
rs772591938	837	V>A		No	ExAC TOPMed gnomAD
rs1822075828	837	V>I		No	Ensembl
rs1822074216	838	D>E		No	Ensembl
rs1822073270	839	E>K		No	gnomAD
rs1183382178	840	E>G		No	TOPMed gnomAD
rs746374514 RCV002261851	840	E>K		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs773899817	841	K>N		No	ExAC TOPMed gnomAD
TCGA novel VAR_000599	845	D>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA UniProt
rs1477487613	845	D>G		No	TOPMed
rs1563476844	845	D>N		No	Ensembl
rs1477487613	845	D>V		No	TOPMed
rs917387478	847	V>L		No	TOPMed gnomAD
rs148006987	848	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs148006987	848	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	848	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1822064136	849	K>R		No	Ensembl
RCV001268004 rs1822063314	850	L>missing		No	ClinVar dbSNP
rs1228362563	853	V>L		No	gnomAD
COSM3649233 COSM3649234	855	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs574086393	857	P>L		No	1000Genomes ExAC gnomAD
rs1187946711	859	I>V		No	Ensembl
rs1191635752	860	P>R		No	gnomAD
rs1821616711	861	R>S		No	gnomAD
COSM3649232 COSM3649231	863	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1263113728	865	A>V		No	gnomAD
TCGA novel rs2150600008	866	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1435310605	867	P>A		No	TOPMed gnomAD
rs2150599996	867	P>R		No	Ensembl
rs1435310605	867	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1353852831	868	E>K		No	TOPMed gnomAD
rs1353852831	868	E>Q		No	TOPMed gnomAD
rs1287717202	869	T>I		No	gnomAD
COSM6180925 COSM6180926	872	I>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs758431224	872	I>V		No	ExAC TOPMed gnomAD
rs374689555	873	R>G		No	ESP ExAC TOPMed gnomAD
rs578184171	873	R>K		No	1000Genomes ExAC gnomAD
rs2150599934	875	E>Q		No	Ensembl
rs752930705	877	Q>P		No	ExAC gnomAD
rs138571521	878	E>G		No	ESP ExAC TOPMed gnomAD
rs1821604564	878	E>K		No	Ensembl
rs150144102	880	A>V		No	ESP TOPMed gnomAD
rs1425085196	881	S>F		No	gnomAD
rs1821124214	882	K>E		No	gnomAD
rs750992097	883	E>A		No	ExAC gnomAD
rs1190367032	883	E>K		No	TOPMed gnomAD
rs1190367032	883	E>Q		No	TOPMed gnomAD
rs750992097	883	E>V		No	ExAC gnomAD
rs1821120085	884	Y>C		No	gnomAD
rs375205043	885	D>G		No	ESP ExAC gnomAD
rs868325109	885	D>N		No	Ensembl
rs1586185194	887	D>A		No	Ensembl
rs1586185194	887	D>G		No	Ensembl
rs1821109955	889	L>F		No	TOPMed
rs1821109955	889	L>V		No	TOPMed
rs1821107307	891	P>L		No	TOPMed
COSM3925308 COSM3925309	893	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1563465327	894	P>L		No	Ensembl
rs768152511	896	T>I		No	ExAC gnomAD
rs1028322459	896	T>P		No	Ensembl
rs775089882	897	E>K		No	ExAC TOPMed gnomAD
rs1228792218	898	T>N		No	TOPMed gnomAD
COSM4821123 COSM4821122	902	I>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1821093059	902	I>T		No	Ensembl
rs780687450	903	S>N		No	TOPMed gnomAD
rs745770688	904	P>L		No	ExAC TOPMed gnomAD
rs1465988204	904	P>S		No	gnomAD
rs141069023	905	V>L		No	ESP ExAC TOPMed gnomAD
rs755101684	906	A>S		No	ExAC TOPMed gnomAD
rs755101684	906	A>T		No	ExAC TOPMed gnomAD
rs747318180	906	A>V		No	ExAC TOPMed gnomAD
rs780388955	907	S>I		No	ExAC TOPMed gnomAD
rs1821081074	907	S>R		No	Ensembl
rs146518198	908	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP NCI-TCGA TOPMed gnomAD
rs146518198	908	P>R		No	ESP TOPMed gnomAD
rs1459401342	909	V>G		No	gnomAD
rs765681934	910	H>N		No	ExAC TOPMed gnomAD
rs757812425	910	H>R		No	ExAC gnomAD
rs765681934	910	H>Y		No	ExAC TOPMed gnomAD
rs1821073858	911	T>S		No	TOPMed
rs1821011286	915	V>A		No	Ensembl
rs774227775	915	V>L		No	ExAC TOPMed gnomAD
rs774227775	915	V>M		No	ExAC TOPMed gnomAD
rs1438292673	916	S>G		No	TOPMed gnomAD
TCGA novel	917	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs895336942	918	M>I		No	TOPMed gnomAD
rs762790343	918	M>L		No	ExAC gnomAD
rs1349728446	919	V>F		No	TOPMed gnomAD
rs1158818216	920	D>G		No	gnomAD
rs760700528	921	A>T		No	ExAC TOPMed gnomAD
rs775580192	921	A>V		No	ExAC gnomAD
rs772217562	922	R>Q		No	ExAC TOPMed gnomAD
rs1478581881 COSM4970260 COSM4970259	922	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
COSM4915027 COSM4915026	923	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3649228 COSM3649227	923	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1229273844	924	G>A		No	TOPMed
COSM1314051 COSM1314052	925	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs757526089	926	M>I		No	Ensembl
rs779132712	926	M>R		No	ExAC gnomAD
rs746104866	926	M>V		No	ExAC gnomAD
rs1820996815	929	S>G		No	Ensembl
rs1480924314	930	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1820994506	931	H>Y		No	Ensembl
rs141257975	932	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2150597086	932	N>S		No	Ensembl
COSM4399185 COSM4399186	933	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs756609009	933	G>S		No	ExAC TOPMed gnomAD
rs780859723	935	R>Q		No	ExAC TOPMed gnomAD
rs1586181590	937	V>G		No	Ensembl
rs1253307837	937	V>L		No	TOPMed
rs1221629266	939	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM6113364 COSM6113365	940	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs375019877	941	R>G		No	ESP ExAC TOPMed gnomAD
rs762859559	941	R>P		No	ExAC TOPMed gnomAD
rs762859559	941	R>Q		No	ExAC TOPMed gnomAD
rs375019877	941	R>W		No	ESP ExAC TOPMed gnomAD
rs765183821 COSM454571 COSM1489297	942	T>M	breast [Cosmic]	No	cosmic curated ExAC TOPMed gnomAD
rs750210551	942	T>S		No	ExAC gnomAD
rs35797405	944	A>S		No	1000Genomes ESP ExAC TOPMed gnomAD
rs759750320	945	A>T		No	ExAC gnomAD
COSM3900206 COSM3900205 rs373287341	945	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	946	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1241740843	947	T>A		No	gnomAD
TCGA novel	947	T>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM2961468 rs749623248 COSM2961469	948	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs770365154	948	R>H		No	ExAC TOPMed gnomAD
rs770365154	948	R>L		No	ExAC TOPMed gnomAD
rs1322765204	949	I>V		No	TOPMed gnomAD
rs774256719	952	R>C		No	TOPMed gnomAD
COSM3432436 rs780841364 COSM3432435	952	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs989152207	954	V>I		No	Ensembl
rs144768223	955	K>R		No	ESP ExAC TOPMed gnomAD
rs144832060	956	P>A		No	ESP ExAC TOPMed gnomAD
rs144832060	956	P>S		No	ESP ExAC TOPMed gnomAD
rs1483106912	957	Q>K		No	TOPMed gnomAD
rs369732815	958	K>E		No	ESP ExAC TOPMed gnomAD
rs1820964631	960	S>G		No	Ensembl
rs750168913	961	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs140978700 COSM3900203 COSM3900204	962	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs140978700	962	P>R		No	ESP ExAC TOPMed gnomAD
rs1335166305	962	P>S		No	gnomAD
rs1426799357	963	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs759562271	963	P>S		No	ExAC gnomAD
rs766555027	964	P>Q		No	ExAC gnomAD
rs1427523626	964	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
TCGA novel	964	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs763095562	965	L>M		No	ExAC gnomAD
rs763095562	965	L>V		No	ExAC gnomAD
COSM141232 COSM1597709	966	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1410669515	968	E>K		No	TOPMed gnomAD
COSM1597710 COSM1099872	970	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1820952762	970	G>S		No	Ensembl
rs957852242	970	G>V		No	Ensembl
rs1820949639	972	A>T		No	TOPMed
COSM6113367 COSM6113366	973	S>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1305186143	973	S>N		No	gnomAD
rs1228486713	975	I>T		No	TOPMed gnomAD
rs1384514572	976	I>T		No	gnomAD
rs1312514127	979	G>V		No	gnomAD
rs1820944582	981	T>A		No	TOPMed
rs767717861	981	T>K		No	ExAC TOPMed gnomAD
rs767717861	981	T>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs767717861	981	T>R		No	ExAC TOPMed gnomAD
rs1364955154	982	G>R		No	TOPMed gnomAD
RCV001994457 rs2150596718	983	A>missing		No	ClinVar dbSNP
rs113676296	983	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1820941258	983	A>V		No	TOPMed
TCGA novel	986	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1586179561	987	S>N		No	Ensembl
rs1820559612	990	I>V		No	TOPMed gnomAD
VAR_026411 rs758454168	991	V>L		No	UniProt ExAC TOPMed dbSNP gnomAD
COSM1244953 rs758454168 COSM1244954	991	V>M	Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs2150594645	995	H>L		No	Ensembl
rs986141826	996	F>C		No	Ensembl
rs762133137	997	A>S		No	ExAC gnomAD
rs754199993	999	H>R		No	ExAC TOPMed gnomAD
rs148222043	1001	R>C		No	ESP ExAC TOPMed gnomAD
rs148222043	1001	R>S		No	ESP ExAC TOPMed gnomAD
rs771589323	1002	G>E		No	ExAC gnomAD
rs1563456881	1003	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1481432415	1004	R>C		No	Ensembl
rs758928244	1004	R>H		No	ExAC TOPMed gnomAD
rs745795959	1005	E>G		No	ExAC
rs770510949	1005	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs777537481	1006	L>V		No	ExAC gnomAD
rs202226361	1007	V>L		No	1000Genomes ExAC TOPMed gnomAD
rs202226361	1007	V>M		No	1000Genomes ExAC TOPMed gnomAD
RCV001984897 rs2150594539	1008	V>missing		No	ClinVar dbSNP
rs2150594524	1011	S>G		No	Ensembl
rs907775044 COSM1472110 COSM1472111	1012	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1820534185	1013	N>D		No	TOPMed
rs1820534185	1013	N>H		No	TOPMed
rs111620878	1013	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1206067199	1013	N>S		No	TOPMed gnomAD
rs1020857894	1014	G>S		No	TOPMed gnomAD
rs1013521339	1015	S>C		No	Ensembl
COSM2961448 COSM2961449	1015	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs779150672	1016	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM4923227 COSM4923226	1018	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1586168036	1021	R>G		No	Ensembl
rs974813554	1022	S>N		No	TOPMed gnomAD
rs757543511	1023	R>C		No	ExAC TOPMed gnomAD
COSM1489296 rs754181369 COSM454569	1023	R>H	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs149132183	1024	Y>C		No	ESP TOPMed gnomAD
rs764489900	1024	Y>H		No	ExAC gnomAD
rs1586167794	1025	G>R		No	Ensembl
rs760994168	1026	E>D		No	ExAC gnomAD
rs1417518372	1026	E>G		No	TOPMed gnomAD
TCGA novel	1027	S>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1184198693	1028	Y>H		No	TOPMed
rs753129477	1028	Y>S		No	ExAC gnomAD
rs1243425335	1030	D>A		No	TOPMed gnomAD
rs1243425335	1030	D>G		No	TOPMed gnomAD
rs1427576087	1030	D>N		No	TOPMed gnomAD
COSM1099871 COSM1597711	1033	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1586167325	1034	N>D		No	Ensembl
rs145169484	1034	N>K		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1820511175	1034	N>S		No	TOPMed
COSM3834721 COSM3834720 rs1001950900	1035	G>R	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
COSM3649222 COSM3649221 rs770492413	1036	M>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs562811662	1037	D>E		No	1000Genomes ExAC TOPMed gnomAD
rs1226911797	1038	E>A		No	gnomAD
rs150407107	1038	E>K		No	ESP ExAC TOPMed gnomAD
COSM3649220 COSM3649219	1039	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1040	L>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1422890395	1041	G>E		No	TOPMed gnomAD
TCGA novel	1043	L>W	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1362550893	1044	E>K		No	gnomAD
rs777921873	1045	E>K		No	ExAC gnomAD
rs1820350809	1046	L>V		No	Ensembl
rs1820349124	1048	K>N		No	TOPMed
rs1304996996	1049	K>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM4401028 COSM4401029	1049	K>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1820347558	1050	R>K		No	Ensembl
rs926504239	1050	R>S		No	Ensembl
rs748468242	1051	V>L		No	ExAC gnomAD
rs748468242	1051	V>M		No	ExAC gnomAD
rs1350732260	1052	C>Y		No	TOPMed
rs560745225	1053	R>Q		No	TOPMed gnomAD
rs951937796	1054	I>V		No	Ensembl
rs369326783	1057	T>I		No	ESP ExAC TOPMed gnomAD
rs1285281625	1057	T>P		No	gnomAD
rs369326783	1057	T>S		No	ESP ExAC TOPMed gnomAD
rs1227723387	1058	D>A		No	TOPMed gnomAD
rs758914272	1058	D>E		No	ExAC TOPMed gnomAD
rs183044726	1058	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs1227723387	1058	D>V		No	TOPMed gnomAD
RCV001509340 rs1247598917	1062	Y>*		No	ClinVar TOPMed dbSNP gnomAD
RCV001509339 rs2150593448	1063	F>missing		No	ClinVar dbSNP
COSM3649217 COSM3649218	1064	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1339258299	1064	V>M		No	TOPMed gnomAD
rs1318626902 COSM1155000 COSM1099870	1065	I>V	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs776430274	1066	M>L		No	ExAC TOPMed gnomAD
COSM1137872 COSM486469	1066	M>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1234197015	1066	M>T		No	TOPMed
rs776430274	1066	M>V		No	ExAC TOPMed gnomAD
rs1820327809	1070	C>*		No	Ensembl
COSM270809	1070	C>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1820326393	1071	Q>L		No	TOPMed
rs551621036	1072	D>V		No	Ensembl
rs775457067 COSM5938204 COSM5938205	1074	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1008540022	1074	D>V		No	gnomAD
rs151275188	1076	I>V		No	ESP ExAC TOPMed gnomAD
rs781424275	1077	G>D		No	ExAC
rs200263785	1077	G>S		No	ESP ExAC TOPMed gnomAD
rs1005949437	1078	P>L		No	TOPMed gnomAD
rs368279119 RCV001509338	1079	E>*		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM4962767 rs368279119 COSM4962766	1079	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs368279119	1079	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1324145150	1080	G>R		No	TOPMed gnomAD
rs780413628	1080	G>V		No	ExAC gnomAD
TCGA novel	1081	G>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs758897845	1081	G>D		No	ExAC gnomAD
rs1820312437	1081	G>S		No	TOPMed
rs751008935	1084	K>M		No	ExAC TOPMed gnomAD
rs751008935	1084	K>R		No	ExAC TOPMed gnomAD
rs1343768535	1085	S>G		No	gnomAD
rs778258699	1087	L>V		No	ExAC gnomAD
rs756842596	1088	V>L		No	ExAC TOPMed gnomAD
rs756842596	1088	V>M		No	ExAC TOPMed gnomAD
rs1174992582	1089	P>R		No	gnomAD
rs760409431	1091	V>I		No	ExAC gnomAD
rs760409431	1091	V>L		No	ExAC gnomAD
rs752525985	1093	A>T		No	ExAC gnomAD
rs1820301259	1094	T>A		No	Ensembl
rs1820300550	1094	T>M		No	TOPMed
rs759359556	1096	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM6113371 COSM6113370	1096	P>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1264919212 COSM3432434 COSM3432433	1097	E>D	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1318127936	1098	N>S		No	TOPMed gnomAD
rs1318127936	1098	N>T		No	TOPMed gnomAD
rs1168623265	1102	K>R		No	TOPMed gnomAD
rs372961624	1103	R>K		No	ESP TOPMed gnomAD
rs761911111	1104	V>A		No	ExAC
rs1215861890	1104	V>M		No	gnomAD
rs776693558	1107	A>V		No	ExAC TOPMed gnomAD
RCV002261850 rs2150593172	1108	L>R		No	ClinVar Ensembl dbSNP
rs1586155394	1110	A>V		No	Ensembl
rs1820122355	1111	Q>H		No	gnomAD
rs771413202	1112	P>A		No	ExAC TOPMed gnomAD
rs771413202	1112	P>T		No	ExAC TOPMed gnomAD
rs749826502	1114	P>L		No	ExAC TOPMed gnomAD
rs749826502	1114	P>R		No	ExAC TOPMed gnomAD
rs1820120135	1114	P>S		No	TOPMed
rs1304740261	1115	D>N		No	TOPMed gnomAD
COSM3649211 COSM3649212 rs1250457932	1116	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs1490729635	1121	L>H		No	gnomAD
rs1056407029	1122	L>P		No	TOPMed
rs1202167354	1124	N>S		No	TOPMed
COSM3900198 COSM3900197	1125	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs370562653	1126	A>D		No	ESP ExAC gnomAD
VAR_028770 rs504465	1126	A>P		No	UniProt Ensembl dbSNP
rs1586154851	1127	T>A		No	Ensembl
rs1820109072	1127	T>I		No	TOPMed
rs2150592257 RCV001509337	1129	S>I		No	ClinVar Ensembl dbSNP
rs751308312	1131	I>T		No	ExAC TOPMed gnomAD
rs1317965754	1133	T>I		No	gnomAD
rs1820105318	1134	V>A		No	TOPMed
rs377236415	1134	V>M		No	ESP TOPMed gnomAD
rs2150592238	1135	E>D		No	Ensembl
rs1554544862 RCV000677121	1137	R>missing		No	ClinVar dbSNP
rs537816993	1137	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1820104657	1137	R>W		No	TOPMed gnomAD
rs1820103190	1138	R>C		No	Ensembl
rs1284031387	1138	R>H		No	TOPMed gnomAD
COSM1244949 COSM1244950 rs911722560	1139	R>Q	Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
COSM1145056 COSM6113373 COSM605437 COSM6113372 rs1363933552	1139	R>W	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1820098619	1142	H>Y		No	Ensembl
rs764141047 COSM3900195 COSM3900196	1143	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs760698540	1143	R>H		No	ExAC TOPMed gnomAD
rs760698540	1143	R>L		No	ExAC TOPMed gnomAD
rs764141047	1143	R>S		No	ExAC TOPMed gnomAD
rs775578121	1145	I>F		No	ExAC gnomAD
COSM3699089 COSM3699090 rs767714240	1145	I>T	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs2150592167	1146	G>R		No	Ensembl
rs148589308	1148	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM5163809 rs148589308 COSM5163808	1148	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs2150592141	1151	L>P		No	Ensembl
rs1045597972	1151	L>V		No	TOPMed
rs749790259	1152	P>S		No	ExAC TOPMed gnomAD
rs773805000 COSM3649209 COSM3649210	1153	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs1262886469	1154	S>F		No	gnomAD
rs1214218766	1156	T>A		No	gnomAD
rs754643588	1158	N>K		No	ExAC gnomAD
rs780578294	1158	N>S		No	ExAC gnomAD
rs369746830	1159	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs369746830	1159	P>R		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1300782683	1159	P>S		No	gnomAD
rs750243858	1160	R>S		No	ExAC gnomAD
rs765121163	1161	D>E		No	ExAC gnomAD
rs757191651	1162	S>C		No	ExAC gnomAD
rs1375440010	1163	G>R		No	TOPMed gnomAD
TCGA novel	1165	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3900194 COSM3900193	1167	T>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1586153386	1167	T>P		No	Ensembl
rs1586153351	1168	T>P		No	Ensembl
rs1197656365	1169	S>G		No	gnomAD
rs1222116030	1170	L>P		No	TOPMed gnomAD
COSM2961422 COSM2961421 rs1428777679	1171	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
TCGA novel	1171	R>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM4413953 rs767553149 COSM188187	1171	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1464784020	1172	L>R		No	gnomAD
TCGA novel	1175	S>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1321444548 COSM1154999 COSM1099868	1176	V>I	Variant assessed as Somatic; MODERATE impact. endometrium breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs539159698	1177	I>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1820060824	1177	I>F		No	TOPMed
rs1255521288	1177	I>T		No	TOPMed gnomAD
rs1820058566	1178	G>R		No	Ensembl
rs1200878225	1179	G>R		No	TOPMed
rs760852805	1180	T>A		No	ExAC gnomAD
rs1305745666	1181	D>N		No	gnomAD
rs1428740502	1182	Q>H		No	gnomAD
COSM6113374 COSM6113375	1182	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs763277980	1183	A>T		No	ExAC
rs750801986	1184	Q>P		No	ExAC TOPMed gnomAD
rs750801986	1184	Q>R		No	ExAC TOPMed gnomAD
rs765760286	1186	E>K		No	ExAC TOPMed gnomAD
TCGA novel rs1586144976	1188	I>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1819769440	1190	G>R		No	TOPMed
rs1472048309	1191	T>I		No	gnomAD
VAR_028771 rs486770	1192	T>P		No	UniProt Ensembl dbSNP
rs777056252	1194	L>P		No	ExAC TOPMed gnomAD
rs1439575269	1195	V>I		No	TOPMed gnomAD
rs1249742197	1196	Y>C		No	gnomAD
rs1819763475	1196	Y>H		No	Ensembl
COSM6113377 COSM6113376	1197	A>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs760066778	1197	A>V		No	ExAC TOPMed gnomAD
rs200633006	1198	N>S		No	1000Genomes ExAC gnomAD
rs540853007	1199	E>K		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	1200	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM1145053 COSM6113378 rs139513895 COSM6113379 COSM605440	1201	A>S	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD
rs1819755799	1202	N>K		No	Ensembl
rs770760220	1202	N>S		No	ExAC gnomAD
rs1285875681	1203	F>C		No	gnomAD
TCGA novel	1203	F>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1819754375	1204	T>A		No	Ensembl
rs961422459	1210	R>K		No	Ensembl
TCGA novel	1211	F>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1189658531	1214	S>A		No	gnomAD
rs34727075	1214	S>L		No	ESP ExAC TOPMed gnomAD
rs748180282	1216	C>Y		No	ExAC gnomAD
TCGA novel	1217	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1446700537	1219	T>I		No	TOPMed gnomAD
rs779240803	1220	A>P		No	1000Genomes ExAC gnomAD
rs975845241	1221	E>K		No	Ensembl
rs185516533	1223	V>G		No	1000Genomes ExAC TOPMed gnomAD
rs768032535	1227	T>I		No	ExAC TOPMed gnomAD
rs753244752	1227	T>S		No	ExAC TOPMed gnomAD
rs1361453961	1228	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs1819645214	1229	L>P		No	TOPMed gnomAD
rs1819642971	1231	K>E		No	TOPMed
TCGA novel	1231	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1486622495	1233	L>V		No	Ensembl
TCGA novel	1234	T>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1586140358	1235	A>V		No	Ensembl
rs1819638808	1236	V>A		No	TOPMed
rs1414036623	1236	V>L		No	TOPMed gnomAD
rs1169877620	1239	M>L		No	TOPMed gnomAD
rs1169877620	1239	M>V		No	TOPMed gnomAD
rs141314514	1240	A>T		No	ESP TOPMed gnomAD
rs1451035163	1242	F>L		No	gnomAD
rs769668519	1243	V>A		No	ExAC TOPMed gnomAD
rs201129527	1243	V>I		No	ESP ExAC TOPMed gnomAD
rs201129527	1243	V>L		No	ESP ExAC TOPMed gnomAD
rs1167098283	1246	A>V		No	TOPMed
rs1819630990	1247	K>N		No	TOPMed
rs1819631691	1247	K>T		No	TOPMed
rs776664392	1248	M>T		No	ExAC gnomAD
rs1207394397	1248	M>V		No	gnomAD
rs1052063727	1249	N>K		No	TOPMed
rs1273182651	1250	D>E		No	TOPMed gnomAD
rs2150589664	1251	P>L		No	Ensembl
COSM3900190 rs1819628292 COSM3900189	1252	R>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs768749731	1252	R>L		No	ExAC TOPMed gnomAD
rs768749731	1252	R>Q		No	ExAC TOPMed gnomAD
rs2150589631	1254	G>A		No	Ensembl
rs2150589631 COSM231750	1254	G>E	skin [Cosmic]	No	cosmic curated Ensembl
rs148275567	1255	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1453535733	1255	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
COSM6113381 COSM6113380	1255	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs749592270	1257	R>C		No	ExAC TOPMed gnomAD
rs749592270	1257	R>S		No	ExAC TOPMed gnomAD
rs1046186629	1261	M>K		No	TOPMed gnomAD
rs1046186629	1261	M>R		No	TOPMed gnomAD
rs1293516474	1263	D>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs1819618064 COSM242936	1264	D>N	prostate [Cosmic]	No	cosmic curated gnomAD
rs1317146196	1264	D>V		No	TOPMed
rs2150589569	1267	D>G		No	Ensembl
rs1819616806	1267	D>Y		No	Ensembl
RCV000513041 CA371058670 rs1554543126	1268	K>*		No	ClinGen ClinVar Ensembl dbSNP
rs1216533541	1269	T>P		No	TOPMed
rs755489310	1272	Q>E		No	ExAC TOPMed gnomAD
rs1167704101	1273	H>Q		No	gnomAD
rs1389825806	1273	H>R		No	gnomAD
rs1232988206	1277	V>A		No	gnomAD
rs148942046	1277	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1819605828	1280	A>V		No	TOPMed gnomAD
rs1481858393	1281	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
COSM1457083 rs764822755 COSM1457084	1281	R>W	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs918560689	1282	S>G		No	TOPMed
COSM3925304 COSM3925305	1284	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1411021256	1285	I>L		No	TOPMed
VAR_000601 RCV002261849 rs2150589462	1286	E>D		No	ClinVar Ensembl dbSNP UniProt
COSM2961398 COSM2961397	1286	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs771932102	1287	V>L		No	ExAC gnomAD
rs773177378	1288	L>M		No	ExAC TOPMed gnomAD
rs1176282154	1288	L>S		No	gnomAD
rs1434511121	1290	G>R		No	gnomAD
rs1264888714	1291	M>T		No	TOPMed gnomAD
rs201033462	1292	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes NCI-TCGA gnomAD
rs748432056	1294	F>Y		No	ExAC TOPMed gnomAD
rs1417512396	1295	A>V		No	TOPMed
rs1586118689	1296	E>D		No	Ensembl
rs781502305	1297	L>F		No	ExAC gnomAD
rs781502305	1297	L>V		No	ExAC gnomAD
COSM3649203 COSM3649204	1298	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM3900185 COSM3900186	1299	G>E	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1300	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs779805849	1302	V>A		No	ExAC gnomAD
rs779805849	1302	V>E		No	ExAC gnomAD
rs780572578	1302	V>M		No	ExAC gnomAD
rs1385947416	1303	P>S		No	gnomAD
rs1055929087	1304	V>E		No	TOPMed
rs749894930	1305	K>N		No	ExAC TOPMed gnomAD
rs180898589	1308	A>P		No	Ensembl
TCGA novel	1308	A>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1387864693	1309	Q>H		No	TOPMed gnomAD
rs182408750	1311	R>L		No	1000Genomes ExAC TOPMed gnomAD
rs182408750	1311	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs778348778	1311	R>W		No	ExAC TOPMed gnomAD
rs147901593	1316	Q>E		No	ESP TOPMed gnomAD
rs1818986561	1316	Q>R		No	Ensembl
rs755926509	1319	R>Q		No	ExAC TOPMed gnomAD
rs767428025	1320	E>D		No	ExAC TOPMed gnomAD
rs1563434543	1320	E>K		No	Ensembl
COSM6113383 COSM6113382	1321	N>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1202247842	1322	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs374960063	1322	R>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1818978703	1324	A>P		No	TOPMed
TCGA novel	1324	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs762000465	1326	P>S		No	ExAC TOPMed gnomAD
rs1481747230	1327	V>I		No	TOPMed gnomAD
rs991421772	1329	V>M		No	Ensembl
TCGA novel	1331	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs772367177	1332	S>N		No	ExAC gnomAD
rs1818928654	1333	S>G		No	TOPMed gnomAD
rs1172677213	1334	R>G		No	TOPMed
rs142517120	1334	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1249807361	1335	E>A		No	gnomAD
rs1818926310	1335	E>Q		No	gnomAD
rs774953398	1336	P>L		No	ExAC TOPMed gnomAD
rs1818924923	1336	P>S		No	TOPMed gnomAD
rs777480032	1337	G>A		No	ExAC gnomAD
rs777480032	1337	G>E		No	ExAC gnomAD
rs748747677	1337	G>R		No	ExAC gnomAD
rs1272544174	1340	L>V		No	gnomAD
rs1586115051	1342	F>L		No	Ensembl
COSM3900184 COSM3900183	1342	F>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1286023397	1343	L>M		No	gnomAD
COSM4939510 COSM4939509	1343	L>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs139384745	1344	R>C		No	ESP ExAC TOPMed gnomAD
rs151337470	1344	R>H		No	ESP ExAC TOPMed gnomAD
rs139384745	1344	R>S		No	ESP ExAC TOPMed gnomAD
rs886062939	1346	A>E		No	TOPMed gnomAD
TCGA novel	1346	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1818913728	1346	A>T		No	Ensembl
rs1818910772 COSM3649195 COSM3649194	1350	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1160555261	1352	T>S		No	gnomAD
rs764226906	1354	H>N		No	ExAC TOPMed gnomAD
rs760924861	1354	H>P		No	ExAC gnomAD
rs1818906575	1354	H>Q		No	TOPMed
TCGA novel	1356	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752914730	1356	L>V		No	ExAC gnomAD
COSM1330985 COSM1330984	1357	C>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1280116657	1360	N>K		No	gnomAD
rs1422734791	1360	N>S		No	Ensembl
rs1248721045	1363	M>I		No	gnomAD
rs1244311771	1363	M>T		No	TOPMed
rs1818901734	1364	P>L		No	TOPMed
rs559026469	1364	P>S		No	ExAC TOPMed gnomAD
rs771548626	1365	P>H		No	ExAC gnomAD
rs771548626	1365	P>L		No	ExAC gnomAD
rs559102261	1365	P>S		No	1000Genomes ExAC TOPMed gnomAD
TCGA novel	1366	C>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs148620640	1367	A>S		No	ESP ExAC TOPMed gnomAD
RCV000901349 rs148620640	1367	A>T		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1029147697	1369	G>A		No	TOPMed
rs1029147697	1369	G>E		No	TOPMed
rs540967954	1369	G>R		No	1000Genomes ExAC gnomAD
rs1563426579	1370	S>C		No	Ensembl
rs867538635	1372	A>T		No	TOPMed gnomAD
rs1260078663	1372	A>V		No	TOPMed gnomAD
COSM3649193 COSM3649192 rs745689377	1373	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs778679492	1373	E>V		No	ExAC gnomAD
rs1818340820	1379	P>A		No	Ensembl
rs748160803	1379	P>R		No	ExAC TOPMed gnomAD
rs774233493	1380	T>A		No	ExAC TOPMed gnomAD
COSM6180928 COSM6180927	1380	T>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM188185 rs755216562	1380	T>M	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766729615	1383	A>V		No	ExAC gnomAD
rs1431339388	1385	R>L		No	gnomAD
rs1431339388	1385	R>Q		No	gnomAD
rs1169602259	1387	S>G		No	gnomAD
rs142425754	1387	S>N		No	ESP ExAC TOPMed gnomAD
rs776002018	1387	S>R		No	ExAC TOPMed gnomAD
rs760298280	1388	I>L		No	ExAC gnomAD
rs760298280	1388	I>V		No	ExAC gnomAD
COSM3649190 rs1204896407 COSM3649191	1389	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD
rs775078667	1389	L>R		No	ExAC gnomAD
rs1818327623	1390	S>N		No	gnomAD
rs1249993349	1391	E>*		No	TOPMed
rs1484355271	1391	E>A		No	TOPMed
VAR_000600	1392	S>T		No	UniProt
rs866474709	1394	P>L		No	gnomAD
rs866474709	1394	P>R		No	gnomAD
TCGA novel	1395	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM5467444 COSM5467443	1396	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1245426320	1400	T>I		No	gnomAD
rs267601924	1401	E>K		No	Ensembl
rs1818229858	1403	A>G		No	gnomAD
rs1213640923	1403	A>T		No	gnomAD
rs2150582823	1405	M>I		No	Ensembl
rs754417524	1405	M>V		No	ExAC gnomAD
rs1226703138	1407	M>I		No	gnomAD
rs139217002	1407	M>K		No	ESP TOPMed gnomAD
rs139217002	1407	M>T		No	ESP TOPMed gnomAD
rs199760447	1409	V>I		No	ESP ExAC TOPMed gnomAD
rs1431685642	1410	I>T		No	TOPMed
rs1302322996	1411	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1818224974	1412	E>*		No	TOPMed
rs1818224363	1413	H>R		No	TOPMed
COSM3649188 COSM3649189	1415	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs774988675	1415	G>S		No	ExAC TOPMed gnomAD
rs905878249	1417	S>I		No	TOPMed gnomAD
rs905878249	1417	S>T		No	TOPMed gnomAD
rs1818220185	1418	W>C		No	TOPMed
TCGA novel	1423	R>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1173387917	1423	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed gnomAD
rs775681777	1434	R>S		No	ExAC gnomAD
COSM1154998 rs1460910760 COSM1099862	1436	R>Q	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD
rs1013109557	1437	V>M		No	Ensembl
rs1817647761	1438	E>A		No	Ensembl
rs962908883	1440	P>H		No	Ensembl
rs1256917555	1440	P>T		No	gnomAD
rs146231479	1441	N>S		No	ESP ExAC TOPMed gnomAD
TCGA novel	1442	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs763316876	1445	E>K		No	gnomAD
COSM3413024 COSM3413025	1447	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1817641092	1447	S>N		No	gnomAD
rs112677283	1447	S>R		No	ESP ExAC TOPMed gnomAD
rs970449780	1448	V>A		No	TOPMed
rs1276634399	1450	L>F		No	gnomAD
rs1817638298	1450	L>W		No	Ensembl
rs1586071863	1452	N>T		No	Ensembl
TCGA novel	1453	L>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1459662449	1454	W>C		No	TOPMed gnomAD
rs778172143	1457	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
COSM1457082 rs138642972 COSM69634	1457	R>H	ovary large_intestine [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
rs1397323601	1459	G>S		No	TOPMed gnomAD
COSM4809549 rs368572433 COSM159056	1462	A>T	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1817184224	1465	E>A		No	TOPMed
rs1817182635	1466	N>T		No	gnomAD
rs1817181883	1467	L>P		No	TOPMed
rs765006361	1469	T>A		No	ExAC TOPMed gnomAD
COSM1457079 rs757079520 COSM1457078	1469	T>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated ExAC NCI-TCGA TOPMed
rs1586057133	1470	A>S		No	Ensembl
rs1243826654	1470	A>V		No	gnomAD
rs1228535558	1472	Q>K		No	gnomAD
rs760591901	1473	S>G		No	ExAC gnomAD
rs1277418441	1473	S>N		No	TOPMed gnomAD
rs1457466693	1473	S>R		No	TOPMed gnomAD
rs1277418441	1473	S>T		No	TOPMed gnomAD
rs200045954	1476	R>C		No	1000Genomes ExAC TOPMed gnomAD
rs557897612	1476	R>H		No	ExAC TOPMed gnomAD
rs557897612	1476	R>L		No	ExAC TOPMed gnomAD
TCGA novel	1477	G>W	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1478	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs777037489	1478	E>K		No	ExAC TOPMed gnomAD
rs769200452	1479	I>M		No	ExAC TOPMed gnomAD
rs977450127	1480	V>A		No	TOPMed gnomAD
rs747508832	1480	V>M		No	ExAC TOPMed gnomAD
rs779595785	1481	N>S		No	ExAC gnomAD
rs1469393175	1482	M>T		No	gnomAD
rs753599962 RCV001773118	1483	L>M		No	ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel rs1817157169	1484	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1452485406	1485	G>D		No	gnomAD
rs565043145	1487	G>C		No	1000Genomes ExAC TOPMed gnomAD
rs565043145	1487	G>R		No	1000Genomes ExAC TOPMed gnomAD
rs565043145	1487	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs1014424312	1487	G>V		No	TOPMed
rs763866388	1488	R>L		No	ExAC TOPMed gnomAD
rs763866388	1488	R>P		No	ExAC TOPMed gnomAD
rs763866388	1488	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1187228917	1489	Q>K		No	TOPMed
rs1817147315	1489	Q>R		No	TOPMed
rs375675063	1490	S>N		No	ESP TOPMed gnomAD
rs756051921	1491	R>C		No	ExAC TOPMed gnomAD
rs372878614	1491	R>P		No	ESP ExAC TOPMed gnomAD
rs756051921	1491	R>S		No	ExAC TOPMed gnomAD
rs1370899625	1492	N>D		No	TOPMed gnomAD
rs1817141676	1492	N>K		No	TOPMed
rs551303640	1493	L>F		No	1000Genomes ExAC TOPMed gnomAD
rs767517798	1493	L>M		No	ExAC gnomAD
rs1432904975	1493	L>S		No	gnomAD
rs773290615	1495	P>S		No	ExAC gnomAD
rs1172380776	1496	D>H		No	Ensembl
rs563374940	1498	R>Q		No	1000Genomes ExAC TOPMed gnomAD
rs373965109	1498	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1817131890	1500	T>N		No	TOPMed
rs1817131890	1500	T>S		No	TOPMed
rs775820344	1501	D>H		No	ExAC TOPMed gnomAD
COSM3900182 COSM3900181 rs775820344	1501	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs745317361	1502	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs745317361	1502	R>G		No	ExAC TOPMed gnomAD
rs375706149	1502	R>H		No	ExAC TOPMed gnomAD
rs745317361	1502	R>S		No	ExAC TOPMed gnomAD
rs1563411314	1503	D>E		No	Ensembl
rs748993091	1503	D>N		No	ExAC TOPMed gnomAD
rs1209085024	1503	D>V		No	gnomAD
rs777606020	1505	S>L		No	ExAC TOPMed gnomAD
rs755821239	1507	S>P		No	ExAC TOPMed gnomAD
rs949567309	1508	P>S		No	gnomAD
COSM6113384 COSM6113385	1508	P>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1817116464	1511	M>R		No	TOPMed gnomAD
rs776388680	1515	S>C		No	ExAC TOPMed gnomAD
TCGA novel	1515	S>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2150563540	1517	L>P		No	Ensembl
rs2150563535	1518	Q>R		No	Ensembl
rs370459551	1520	E>K		No	ESP ExAC TOPMed gnomAD
rs370459551	1520	E>Q		No	ESP ExAC TOPMed gnomAD
rs2150563523	1521	L>M		No	Ensembl
rs758370734	1523	S>T		No	ExAC TOPMed gnomAD
rs1048164167	1524	P>S		No	Ensembl
rs1287545895	1525	A>P		No	TOPMed
rs1287545895	1525	A>T		No	TOPMed
rs777979057	1526	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs756261656	1528	G>A		No	ExAC TOPMed gnomAD
rs756261656	1528	G>D		No	ExAC TOPMed gnomAD
TCGA novel	1530	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1395906986	1531	L>I		No	TOPMed gnomAD
rs1395906986	1531	L>V		No	TOPMed gnomAD
rs1482010268	1532	S>T		No	TOPMed
rs1451151582	1533	S>C		No	gnomAD
rs918229704	1533	S>P		No	TOPMed gnomAD
COSM1457075 COSM1457074 rs755323122	1534	P>L	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1812860709	1534	P>S		No	TOPMed gnomAD
rs1427448444	1535	L>I		No	gnomAD
rs1393742550	1535	L>P		No	gnomAD
COSM6180929 COSM6180930	1535	L>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1145046 rs767213092 COSM6113386 COSM6113387 COSM605447	1536	R>L	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs767213092	1536	R>P		No	ExAC TOPMed gnomAD
rs1263903666	1537	A>E		No	gnomAD
rs1812852432	1538	D>E		No	TOPMed gnomAD
COSM299054	1538	D>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1184905798	1539	Q>*		No	gnomAD
rs1256879399	1539	Q>H		No	gnomAD
TCGA novel	1539	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1485657339	1539	Q>L		No	TOPMed gnomAD
TCGA novel	1539	Q>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1485657339	1539	Q>R		No	TOPMed gnomAD
rs1249018356	1540	Y>H		No	TOPMed gnomAD
rs1211263348	1540	Y>S		No	TOPMed gnomAD
TCGA novel	1541	W>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs772564610	1541	W>R		No	ExAC TOPMed gnomAD
COSM5998110 COSM5998111	1543	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs985592540	1545	A>D		No	Ensembl
rs1308060199	1545	A>S		No	gnomAD
rs1360752622	1546	V>D		No	gnomAD
rs1416952859	1547	L>P		No	TOPMed gnomAD
rs768302471	1547	L>V		No	ExAC TOPMed gnomAD
rs1812835237	1549	A>G		No	TOPMed
rs746749685	1549	A>T		No	ExAC gnomAD
rs775324444	1550	I>V		No	ExAC TOPMed gnomAD
rs267601923	1551	P>L		No	Ensembl
rs1273613625	1551	P>T		No	TOPMed
RCV001967963 rs774117685	1553	A>V		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs756175061	1555	T>M		No	ExAC TOPMed gnomAD
rs756175061	1555	T>R		No	ExAC TOPMed gnomAD
rs1255242079	1556	E>G	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	Ensembl NCI-TCGA
rs755304771	1557	H>R		No	ExAC gnomAD
rs781503527	1557	H>Y		No	ExAC gnomAD
rs865882131	1560	M>I		No	TOPMed gnomAD
rs1480918023	1561	L>P		No	gnomAD
rs1812821807	1562	E>K		No	TOPMed
COSM3834718 COSM3834719	1564	S>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs368973931	1564	S>Y		No	ESP
rs2150563288 RCV001509333	1565	D>missing		No	ClinVar dbSNP
rs762286773	1565	D>N		No	Ensembl
rs751965455	1566	M>I		No	ExAC gnomAD
rs1812816415	1569	W>C		No	Ensembl
rs1812815525	1570	S>P		No	TOPMed
rs1812813820	1571	A>S		No	Ensembl
rs376400988	1571	A>V		No	ESP ExAC TOPMed gnomAD
COSM1099859 COSM1597720 rs143760629	1574	T>A	Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs753359752	1575	P>H		No	ExAC gnomAD
COSM1457073 COSM1457072	1576	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1585934019	1577	L>P		No	Ensembl
rs760389794	1578	V>I		No	ExAC TOPMed gnomAD
rs1467245942	1579	T>S		No	TOPMed gnomAD
rs558570111	1580	A>T		No	1000Genomes ExAC gnomAD
rs1418627171	1582	D>G		No	gnomAD
rs771954847	1582	D>N		No	ExAC gnomAD
rs1167254275	1583	S>Y		No	gnomAD
rs759275587	1584	S>F		No	ExAC TOPMed gnomAD
rs1438192709	1586	E>Q		No	TOPMed gnomAD
rs1812795025	1587	C>Y		No	Ensembl
rs1344166589	1588	S>R		No	gnomAD
rs913559693	1590	A>T		No	TOPMed gnomAD
rs1457291305 VAR_000602	1592	D>N	Duesseldorf [UniProt]	No	UniProt TOPMed dbSNP gnomAD
rs1215083583	1594	D>Y		No	TOPMed gnomAD
COSM6180931 COSM6180932	1595	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1204538439	1595	A>T		No	TOPMed gnomAD
rs555535705	1596	T>I		No	ExAC TOPMed gnomAD
rs555535705	1596	T>K		No	ExAC TOPMed gnomAD
rs555535705	1596	T>R		No	ExAC TOPMed gnomAD
COSM3900177 COSM3900178	1597	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2150563152	1598	H>Y		No	Ensembl
rs896900492	1599	E>K		No	TOPMed gnomAD
rs991823775	1601	K>E		No	Ensembl
rs148991558	1601	K>N		No	ESP ExAC TOPMed gnomAD
rs1337935670	1603	E>K		No	TOPMed gnomAD
COSM3649181 rs2150563130 COSM3649180	1604	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs780160212	1605	A>S		No	ExAC gnomAD
rs780160212	1605	A>T		No	ExAC gnomAD
rs779418196	1608	E>A		No	ExAC gnomAD
rs367961998	1608	E>Q		No	ESP ExAC TOPMed gnomAD
rs912797601	1609	E>K		No	Ensembl
rs1426648951	1610	P>L		No	TOPMed gnomAD
rs375228300	1611	R>G		No	ESP ExAC TOPMed gnomAD
COSM1489294 rs538742550 COSM454567	1611	R>Q	Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM3900176 COSM3900175 rs375228300	1611	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs145857478	1612	G>D		No	ESP ExAC TOPMed gnomAD
rs1470124100	1613	P>S		No	gnomAD
TCGA novel	1614	E>A	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1179459853	1614	E>K		No	TOPMed gnomAD
rs1179459853	1614	E>Q		No	TOPMed gnomAD
rs759312022	1616	G>A		No	ExAC TOPMed gnomAD
TCGA novel	1618	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
COSM3649179 COSM3649178	1619	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs774067157	1619	E>Q		No	ExAC gnomAD
rs770893965	1620	L>P		No	ExAC TOPMed gnomAD
rs763021600	1621	V>A		No	ExAC TOPMed gnomAD
rs763021600	1621	V>E		No	ExAC TOPMed gnomAD
COSM750361 COSM1151116	1622	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs776829174	1623	D>E		No	ExAC TOPMed gnomAD
rs1352456855	1623	D>G		No	TOPMed gnomAD
rs768806998	1624	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs113549815	1625	T>A		No	ExAC gnomAD
rs769179485	1625	T>I		No	Ensembl
rs980013581	1628	S>L		No	TOPMed
rs1211020142	1629	D>V		No	TOPMed gnomAD
COSM1552671 rs772197636 COSM1552672 COSM6180935 COSM6180936	1629	D>Y	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs1563371726	1630	A>V		No	Ensembl
rs1370388534	1631	T>A		No	TOPMed gnomAD
rs966787347	1631	T>I		No	Ensembl
rs1812744778	1632	N>D		No	gnomAD
rs760678174	1633	G>S		No	Ensembl
rs1262844423	1634	L>F		No	TOPMed
rs1402646676	1634	L>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA gnomAD
rs1021085353	1635	I>T		No	TOPMed gnomAD
rs757733100	1636	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1480490358	1637	L>F		No	TOPMed gnomAD
rs370799575	1640	Q>E		No	ESP ExAC TOPMed gnomAD
rs866841794	1641	E>K		No	Ensembl
COSM1700025 rs372606605 COSM1700024	1642	E>K	Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD
rs755585073	1643	G>R		No	ExAC gnomAD
rs1812729988	1645	R>T		No	TOPMed
rs1448363688	1647	E>G		No	gnomAD
TCGA novel	1648	E>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1812727161	1649	K>R		No	TOPMed gnomAD
rs2150562896	1650	L>P		No	1000Genomes
rs1812725161	1651	P>T		No	Ensembl
rs1812724313	1652	G>S		No	TOPMed
rs752158132	1653	S>F		No	ExAC TOPMed gnomAD
COSM1182746 COSM1182747	1653	S>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
RCV002261848 rs866562435	1654	K>R		No	ClinVar Ensembl dbSNP
TCGA novel	1657	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs149859024	1658	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs767180876	1658	D>G		No	ExAC TOPMed gnomAD
rs766323786	1659	A>T		No	ExAC TOPMed gnomAD
rs1324840596	1660	T>I		No	TOPMed gnomAD
rs1324840596	1660	T>R		No	TOPMed gnomAD
rs1399112874	1665	D>E		No	gnomAD
rs765269898	1665	D>Y		No	ExAC TOPMed gnomAD
rs137852829	1669	E>K		No	TOPMed gnomAD
rs137852829	1669	E>Q		No	TOPMed gnomAD
rs760779206	1671	S>P		No	ExAC gnomAD
rs1563370934	1672	L>F		No	Ensembl
TCGA novel	1672	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs775491062	1673	V>I		No	ExAC TOPMed gnomAD
rs1812706017	1675	G>A		No	TOPMed
rs1029630144	1676	H>R		No	Ensembl
rs772335161	1678	R>G		No	ExAC gnomAD
COSM4550996 COSM4550995	1678	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1035590521	1678	R>M		No	TOPMed gnomAD
rs746117507	1681	A>S		No	ExAC TOPMed gnomAD
TCGA novel	1682	R>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1585929471	1685	H>P		No	Ensembl
rs756631961	1685	H>Y		No	ExAC TOPMed gnomAD
rs146413126	1686	S>F		No	ESP ExAC TOPMed gnomAD
COSM3675130 COSM3675131	1687	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs373292524	1687	P>S		No	ESP ExAC TOPMed gnomAD
rs373292524	1687	P>T		No	ESP ExAC TOPMed gnomAD
COSM3649176 COSM3649177	1688	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
TCGA novel	1688	T>P	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs758199811	1689	V>L		No	ExAC TOPMed gnomAD
rs758199811	1689	V>M		No	ExAC TOPMed gnomAD
rs1164741199	1690	S>N		No	TOPMed
rs374505506	1692	V>M		No	ESP ExAC TOPMed gnomAD
rs567116417 COSM1496904 COSM1496903	1693	T>M	kidney Variant assessed as Somatic; MODERATE impact. pancreas [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs774399914	1696	S>N		No	ExAC TOPMed gnomAD
rs1812683351	1696	S>R		No	gnomAD
TCGA novel	1697	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs868445628	1698	D>G		No	Ensembl
rs1169405974	1698	D>Y		No	TOPMed gnomAD
rs1475325112	1699	R>K		No	gnomAD
rs1469893280	1700	L>P		No	gnomAD
COSM3900170 COSM3900169	1702	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs868349230	1704	D>E		No	gnomAD
rs375339038	1704	D>N		No	ESP ExAC TOPMed gnomAD
rs1811268480	1704	D>V		No	gnomAD
COSM6113389 COSM6113388	1704	D>Y	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1811266961	1706	D>G		No	TOPMed
COSM1489292 COSM1489291	1707	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs368366417	1708	S>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1308465205	1709	I>T		No	TOPMed gnomAD
rs1440944033	1710	V>D		No	gnomAD
rs267601922	1711	S>L		No	Ensembl
rs1028979326	1713	L>V		No	TOPMed
TCGA novel	1716	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs374154854	1718	Q>P		No	ESP ExAC TOPMed gnomAD
rs778719660	1719	G>D		No	ExAC TOPMed gnomAD
rs182297634	1719	G>S		No	Ensembl
rs1251500271	1721	W>R		No	TOPMed gnomAD
rs1442111290	1723	E>G		No	TOPMed gnomAD
rs756933506	1723	E>K		No	ExAC gnomAD
rs750530498	1724	E>D		No	gnomAD
rs200662932	1726	T>R		No	1000Genomes ExAC TOPMed gnomAD
rs1811250067	1727	Q>*		No	TOPMed gnomAD
rs1811250067	1727	Q>K		No	TOPMed gnomAD
rs1380169648	1728	G>S		No	gnomAD
rs1475792009	1729	P>S		No	TOPMed
rs1811247343	1732	F>L		No	Ensembl
rs1170609917	1732	F>L		No	TOPMed
rs1811245845	1733	Q>P		No	Ensembl
rs1811245187	1734	G>R		No	Ensembl
rs766507295	1735	T>I		No	ExAC gnomAD
rs1265326754	1736	S>G		No	gnomAD
rs570462436	1736	S>I		No	1000Genomes ExAC gnomAD
rs570462436	1736	S>N		No	1000Genomes ExAC gnomAD
COSM3649172 rs1811240686 COSM3649173	1737	T>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs1585886942	1738	M>T		No	Ensembl
TCGA novel	1742	L>I	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1168910433	1743	E>G		No	TOPMed
rs537167085	1744	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs761331660	1745	G>D		No	ExAC TOPMed gnomAD
rs765493524	1745	G>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs761331660	1745	G>V		No	ExAC TOPMed gnomAD
rs775125344	1747	S>C		No	ExAC TOPMed gnomAD
rs773833691	1751	E>A		No	ExAC gnomAD
rs770636479	1751	E>D		No	ExAC gnomAD
COSM4877251 rs142163190 COSM4877252	1751	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD
rs142163190	1751	E>Q		No	ESP ExAC TOPMed gnomAD
TCGA novel rs777659353	1752	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD NCI-TCGA
RCV001290760 rs1811228521	1754	L>missing		No	ClinVar dbSNP
rs1563356573	1755	V>A		No	Ensembl
rs748023535	1757	V>L		No	ExAC gnomAD
rs77858537	1758	S>T		No	Ensembl
COSM3925300 COSM3925301 rs750526984	1759	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD
rs528337744	1761	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs1056191671	1762	W>C		No	Ensembl
rs1486042399	1763	T>A		No	Ensembl
rs375477157	1763	T>R		No	ESP ExAC TOPMed gnomAD
rs776071944	1764	E>A		No	ExAC TOPMed gnomAD
rs200811850	1765	Q>R		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1766	P>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs149529557	1767	E>K		No	ESP ExAC TOPMed gnomAD
TCGA novel	1767	E>R	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1769	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1231825386	1771	S>F		No	TOPMed gnomAD
rs929244464	1771	S>P		No	TOPMed gnomAD
rs770455994	1772	Q>E		No	ExAC gnomAD
COSM1314050 COSM1314049	1772	Q>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs772756792	1773	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs376971961	1773	A>P		No	ESP ExAC TOPMed gnomAD
rs376971961	1773	A>T		No	ESP ExAC TOPMed gnomAD
rs1811206208 COSM331619	1774	D>E	lung [Cosmic]	No	cosmic curated Ensembl
rs747971990	1774	D>N		No	ExAC gnomAD
rs747971990	1774	D>Y		No	ExAC gnomAD
rs1811205516 COSM223250	1775	R>K	skin [Cosmic]	No	cosmic curated Ensembl
COSM6113390 COSM6113391	1775	R>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs138209011	1777	R>P		No	ESP ExAC TOPMed gnomAD
rs138209011	1777	R>Q		No	ESP ExAC TOPMed gnomAD
rs781061339	1777	R>W	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs532269443	1778	R>K		No	1000Genomes ExAC TOPMed gnomAD
rs2150556384	1779	Q>K		No	Ensembl
rs757408601	1781	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs754033237	1781	G>D		No	ExAC TOPMed gnomAD
rs757408601	1781	G>S		No	ExAC gnomAD
rs754033237	1781	G>V		No	ExAC TOPMed gnomAD
RCV001543434 rs2150556374	1782	Q>*		No	ClinVar Ensembl dbSNP
rs764226402	1782	Q>R		No	ExAC gnomAD
COSM3649168 rs1184429661 COSM3649169	1784	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA gnomAD
rs1232279430	1785	Q>E		No	TOPMed gnomAD
rs1418853541	1785	Q>H		No	gnomAD
rs1811195476	1788	E>A		No	TOPMed
rs756505766	1788	E>K		No	ExAC gnomAD
TCGA novel	1789	A>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs753132695	1789	A>T		No	ExAC TOPMed gnomAD
rs1811193990	1789	A>V		No	TOPMed
rs768112810	1790	K>E		No	ExAC gnomAD
RCV000733834 rs760157830	1790	K>N		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs201370791	1791	N>I		No	1000Genomes ExAC TOPMed gnomAD
rs1259408866	1791	N>K		No	gnomAD
rs201370791	1791	N>T		No	1000Genomes ExAC TOPMed gnomAD
rs143881804	1793	F>L		No	ESP ExAC TOPMed gnomAD
rs1811187131	1794	T>I		No	Ensembl
rs1235475100	1796	V>M		No	gnomAD
rs772884337	1797	V>A		No	ExAC TOPMed gnomAD
rs772884337	1797	V>G		No	ExAC TOPMed gnomAD
rs1195958279	1798	Q>R		No	TOPMed
rs773545929 COSM1597724 COSM1099849 COSM1099850	1799	G>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA Cosmic NCI-TCGA
rs2150548168 RCV001904062	1799	G>R		No	ClinVar Ensembl dbSNP
rs1436801828	1800	N>K		No	gnomAD
rs917718228	1801	E>A		No	Ensembl
rs1420247572	1806	P>A		No	TOPMed gnomAD
rs770385311	1807	G>W		No	ExAC gnomAD
rs747582386	1809	Q>H		No	ExAC TOPMed gnomAD
COSM2153033 rs780824103 COSM2153032 COSM2153034	1810	V>M	Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1809348192	1812	E>G		No	Ensembl
rs1809346347	1813	E>K		No	gnomAD
RCV001770688 rs778838145 COSM167227	1816	T>M	large_intestine [Cosmic]	No	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1809342363	1818	E>G		No	TOPMed
rs528332130	1820	G>S		No	1000Genomes ExAC TOPMed gnomAD
rs750253055	1822	I>N		No	ExAC TOPMed gnomAD
rs750253055	1822	I>T		No	ExAC TOPMed gnomAD
rs953540786	1825	K>R		No	TOPMed
rs1808411013	1828	I>T		No	TOPMed
RCV001773117 rs751690725	1829	R>C		No	ClinVar ExAC TOPMed dbSNP gnomAD
COSM2156939 rs370175565 COSM2156937 COSM2156938 RCV001508611	1829	R>H	central_nervous_system [Cosmic]	No	cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs751690725	1829	R>S		No	ExAC TOPMed gnomAD
rs750744290	1830	K>N		No	ExAC TOPMed gnomAD
rs758718875	1830	K>R		No	ExAC gnomAD
rs137852831	1833	R>G		No	TOPMed gnomAD
rs762089498	1833	R>Q		No	ExAC TOPMed gnomAD
rs1218976308	1834	Q>K		No	gnomAD
rs764722108	1834	Q>P		No	ExAC TOPMed gnomAD
rs1283613431	1835	I>T		No	TOPMed
rs1808396213	1838	S>F		No	gnomAD
rs775178424	1838	S>P		No	ExAC TOPMed gnomAD
rs771619205	1839	S>G		No	ExAC TOPMed gnomAD
COSM3900166 COSM3900165 rs749120821 COSM3900164	1840	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD
rs143987736	1841	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ESP ExAC NCI-TCGA TOPMed gnomAD
rs1808390201	1842	A>T		No	Ensembl
rs145506191 COSM309097 COSM309096	1843	A>T	lung [Cosmic]	No	cosmic curated ESP ExAC TOPMed gnomAD
COSM6113393 COSM6113392 COSM6113394	1844	Q>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs747090498	1846	H>D		No	ExAC TOPMed gnomAD
rs747090498	1846	H>Y		No	ExAC TOPMed gnomAD
rs773248082	1847	E>K		No	ExAC TOPMed gnomAD
rs750593058	1848	E>D		No	ExAC TOPMed gnomAD
rs1808381261	1848	E>G		No	TOPMed
rs1158748390	1848	E>K		No	TOPMed gnomAD
COSM1314047 COSM1314046 COSM1314048	1849	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1060131	1851	V>E		No	Ensembl
rs1238915224	1851	V>I		No	gnomAD
COSM750366 COSM750367 COSM1151113	1851	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1060132	1852	E>A		No	ESP ExAC TOPMed gnomAD
rs1060132	1852	E>G		No	ESP ExAC TOPMed gnomAD
rs1316360132	1853	G>R		No	gnomAD
COSM337193 rs757595632	1854	P>S	lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA]	No	NCI-TCGA Cosmic cosmic curated ExAC TOPMed gnomAD
rs757595632	1854	P>T		No	ExAC TOPMed gnomAD
rs1060133	1857	D>E		No	TOPMed gnomAD
rs1209532517	1857	D>Y		No	TOPMed
rs1060134	1858	P>T		No	Ensembl
rs1808362683	1860	E>*		No	Ensembl
rs1356899545	1860	E>G		No	gnomAD
rs1060138	1863	V>I		No	TOPMed
rs1060139	1864	D>A		No	Ensembl
rs766994520	1865	I>M		No	ExAC gnomAD
rs752241575	1865	I>T		No	ExAC TOPMed gnomAD
rs1352407097	1866	D>G		No	gnomAD
rs568437514	1866	D>N		No	1000Genomes ExAC TOPMed gnomAD
rs774013143	1867	Y>*		No	ExAC gnomAD
rs1239537504	1867	Y>C		No	TOPMed gnomAD
rs1239537504	1867	Y>S		No	TOPMed gnomAD
rs1563330845	1868	F>L		No	Ensembl
rs1808341994	1868	F>L		No	Ensembl
RCV000885335 rs770509350	1868	F>Y		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs762709205	1869	M>I		No	ExAC gnomAD
rs1355898313	1870	K>E		No	TOPMed gnomAD
rs1254936523	1872	S>Y		No	TOPMed gnomAD
rs1423173525	1873	K>T		No	gnomAD
rs1293898654	1875	H>N		No	TOPMed gnomAD
rs926804085	1875	H>R		No	TOPMed gnomAD
rs1805430475	1876	T>I		No	TOPMed
rs756188673	1877	S>L		No	ExAC TOPMed gnomAD
rs980962937	1879	P>L		No	TOPMed
rs980962937	1879	P>R		No	TOPMed
rs373306968	1879	P>S		No	gnomAD
rs373306968	1879	P>T		No	gnomAD
rs1370731805	1880	N>K		No	gnomAD
rs75589740	1880	N>Y		No	Ensembl
rs1381216417	1881	P>R		No	Ensembl
rs1424093431	1882	P>R		No	TOPMed gnomAD

No associated diseases with P16157

2 regional properties for P16157

Type	Name	Position	InterPro Accession
domain	Sodium/calcium exchanger membrane region	97 - 257	IPR004837-1
domain	Sodium/calcium exchanger membrane region	290 - 433	IPR004837-2

Functions

		Description
EC Number
Subcellular Localization	[Isoform Er1]: Cytoplasm, cytoskeleton	Probably the other erythrocyte (Er) isoforms, are located near the surface of erythrocytic plasma membrane
PANTHER Family	PTHR24198	ANKYRIN REPEAT AND PROTEIN KINASE DOMAIN-CONTAINING PROTEIN
PANTHER Subfamily	PTHR24198:SF173	ANKYRIN-3
PANTHER Protein Class	non-receptor serine/threonine protein kinase protein modifying enzyme
PANTHER Pathway Category	No pathway information available

14 GO annotations of cellular component

Name	Definition
ankyrin-1 complex	A complex composed of ANK1, RHCE, RHAG, SLC4A1, EPB42, GYPA, GYPB and AQP1, that functions in the stability and shape of the erythrocyte membrane in human.
axolemma	The portion of the plasma membrane surrounding an axon; it is a specialized trilaminar random mosaic of protein molecules floating within a fluid matrix of highly mobile phospholipid molecules, 7-8 nm in thickness.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
cytoplasmic side of plasma membrane	The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
M band	The midline of aligned thick filaments in a sarcomere; location of specific proteins that link thick filaments. Depending on muscle type the M band consists of different numbers of M lines.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic membrane	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.
sarcolemma	The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers.
sarcoplasmic reticulum	A fine reticular network of membrane-limited elements that pervades the sarcoplasm of a muscle cell; continuous over large portions of the cell and with the nuclear envelope; that part of the endoplasmic reticulum specialized for calcium release, uptake and storage.
spectrin-associated cytoskeleton	The part of the cytoskeleton composed of spectrin, protein 4.1 and ankyrin. Spectrin-associated cytoskeleton is associated with the plasma membrane.
Z disc	Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

8 GO annotations of molecular function

Name	Definition
ATPase binding	Binding to an ATPase, any enzyme that catalyzes the hydrolysis of ATP.
cytoskeletal anchor activity	The binding activity of a protein that brings together a cytoskeletal protein (either a microtubule or actin filament, spindle pole body, or protein directly bound to them) and one or more other molecules, permitting them to function in a coordinated way.
enzyme binding	Binding to an enzyme, a protein with catalytic activity.
protein phosphatase binding	Binding to a protein phosphatase.
spectrin binding	Binding to spectrin, a protein that is the major constituent of the erythrocyte cytoskeletal network. It associates with band 4.1 (see band protein) and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. It is composed of nonhomologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers.
structural constituent of cytoskeleton	The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.
structural molecule activity	The action of a molecule that contributes to the structural integrity of a complex.
transmembrane transporter binding	Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

7 GO annotations of biological process

Name	Definition
cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures.
endoplasmic reticulum to Golgi vesicle-mediated transport	The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi.
exocytosis	A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
maintenance of epithelial cell apical/basal polarity	The maintenance of the apicobasal polarity of an epithelial cell.
positive regulation of organelle organization	Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
F1N6G5	HACE1	E3 ubiquitin-protein ligase HACE1	Bos taurus (Bovine)	SS
E1C656	HACE1	E3 ubiquitin-protein ligase HACE1	Gallus gallus (Chicken)	SS
Q8IYU2	HACE1	E3 ubiquitin-protein ligase HACE1	Homo sapiens (Human)	EV
Q01484	ANK2	Ankyrin-2	Homo sapiens (Human)	EV
Q12955	ANK3	Ankyrin-3	Homo sapiens (Human)	SS
Q3U0D9	Hace1	E3 ubiquitin-protein ligase HACE1	Mus musculus (Mouse)	SS
Q8C8R3	Ank2	Ankyrin-2	Mus musculus (Mouse)	SS
Q02357	Ank1	Ankyrin-1	Mus musculus (Mouse)	SS
D3ZBM7	Hace1	E3 ubiquitin-protein ligase HACE1	Rattus norvegicus (Rat)	SS
O70511	Ank3	Ankyrin-3	Rattus norvegicus (Rat)	EV
Q28BK1	hace1	E3 ubiquitin-protein ligase HACE1	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	SS
F8W2M1	hace1	E3 ubiquitin-protein ligase HACE1	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MPYSVGFREA	DAATSFLRAA	RSGNLDKALD	HLRNGVDINT	CNQNGLNGLH	LASKEGHVKM
70	80	90	100	110	120
VVELLHKEII	LETTTKKGNT	ALHIAALAGQ	DEVVRELVNY	GANVNAQSQK	GFTPLYMAAQ
130	140	150	160	170	180
ENHLEVVKFL	LENGANQNVA	TEDGFTPLAV	ALQQGHENVV	AHLINYGTKG	KVRLPALHIA
190	200	210	220	230	240
ARNDDTRTAA	VLLQNDPNPD	VLSKTGFTPL	HIAAHYENLN	VAQLLLNRGA	SVNFTPQNGI
250	260	270	280	290	300
TPLHIASRRG	NVIMVRLLLD	RGAQIETKTK	DELTPLHCAA	RNGHVRISEI	LLDHGAPIQA
310	320	330	340	350	360
KTKNGLSPIH	MAAQGDHLDC	VRLLLQYDAE	IDDITLDHLT	PLHVAAHCGH	HRVAKVLLDK
370	380	390	400	410	420
GAKPNSRALN	GFTPLHIACK	KNHVRVMELL	LKTGASIDAV	TESGLTPLHV	ASFMGHLPIV
430	440	450	460	470	480
KNLLQRGASP	NVSNVKVETP	LHMAARAGHT	EVAKYLLQNK	AKVNAKAKDD	QTPLHCAARI
490	500	510	520	530	540
GHTNMVKLLL	ENNANPNLAT	TAGHTPLHIA	AREGHVETVL	ALLEKEASQA	CMTKKGFTPL
550	560	570	580	590	600
HVAAKYGKVR	VAELLLERDA	HPNAAGKNGL	TPLHVAVHHN	NLDIVKLLLP	RGGSPHSPAW
610	620	630	640	650	660
NGYTPLHIAA	KQNQVEVARS	LLQYGGSANA	ESVQGVTPLH	LAAQEGHAEM	VALLLSKQAN
670	680	690	700	710	720
GNLGNKSGLT	PLHLVAQEGH	VPVADVLIKH	GVMVDATTRM	GYTPLHVASH	YGNIKLVKFL
730	740	750	760	770	780
LQHQADVNAK	TKLGYSPLHQ	AAQQGHTDIV	TLLLKNGASP	NEVSSDGTTP	LAIAKRLGYI
790	800	810	820	830	840
SVTDVLKVVT	DETSFVLVSD	KHRMSFPETV	DEILDVSEDE	GEELISFKAE	RRDSRDVDEE
850	860	870	880	890	900
KELLDFVPKL	DQVVESPAIP	RIPCAMPETV	VIRSEEQEQA	SKEYDEDSLI	PSSPATETSD
910	920	930	940	950	960
NISPVASPVH	TGFLVSFMVD	ARGGSMRGSR	HNGLRVVIPP	RTCAAPTRIT	CRLVKPQKLS
970	980	990	1000	1010	1020
TPPPLAEEEG	LASRIIALGP	TGAQFLSPVI	VEIPHFASHG	RGDRELVVLR	SENGSVWKEH
1030	1040	1050	1060	1070	1080
RSRYGESYLD	QILNGMDEEL	GSLEELEKKR	VCRIITTDFP	LYFVIMSRLC	QDYDTIGPEG
1090	1100	1110	1120	1130	1140
GSLKSKLVPL	VQATFPENAV	TKRVKLALQA	QPVPDELVTK	LLGNQATFSP	IVTVEPRRRK
1150	1160	1170	1180	1190	1200
FHRPIGLRIP	LPPSWTDNPR	DSGEGDTTSL	RLLCSVIGGT	DQAQWEDITG	TTKLVYANEC
1210	1220	1230	1240	1250	1260
ANFTTNVSAR	FWLSDCPRTA	EAVNFATLLY	KELTAVPYMA	KFVIFAKMND	PREGRLRCYC
1270	1280	1290	1300	1310	1320
MTDDKVDKTL	EQHENFVEVA	RSRDIEVLEG	MSLFAELSGN	LVPVKKAAQQ	RSFHFQSFRE
1330	1340	1350	1360	1370	1380
NRLAMPVKVR	DSSREPGGSL	SFLRKAMKYE	DTQHILCHLN	ITMPPCAKGS	GAEDRRRTPT
1390	1400	1410	1420	1430	1440
PLALRYSILS	ESTPGSLSGT	EQAEMKMAVI	SEHLGLSWAE	LARELQFSVE	DINRIRVENP
1450	1460	1470	1480	1490	1500
NSLLEQSVAL	LNLWVIREGQ	NANMENLYTA	LQSIDRGEIV	NMLEGSGRQS	RNLKPDRRHT
1510	1520	1530	1540	1550	1560
DRDYSLSPSQ	MNGYSSLQDE	LLSPASLGCA	LSSPLRADQY	WNEVAVLDAI	PLAATEHDTM
1570	1580	1590	1600	1610	1620
LEMSDMQVWS	AGLTPSLVTA	EDSSLECSKA	EDSDATGHEW	KLEGALSEEP	RGPELGSLEL
1630	1640	1650	1660	1670	1680
VEDDTVDSDA	TNGLIDLLEQ	EEGQRSEEKL	PGSKRQDDAT	GAGQDSENEV	SLVSGHQRGQ
1690	1700	1710	1720	1730	1740
ARITHSPTVS	QVTERSQDRL	QDWDADGSIV	SYLQDAAQGS	WQEEVTQGPH	SFQGTSTMTE
1750	1760	1770	1780	1790	1800
GLEPGGSQEY	EKVLVSVSEH	TWTEQPEAES	SQADRDRRQQ	GQEEQVQEAK	NTFTQVVQGN
1810	1820	1830	1840	1850	1860
EFQNIPGEQV	TEEQFTDEQG	NIVTKKIIRK	VVRQIDLSSA	DAAQEHEEVT	VEGPLEDPSE
1870	1880
LEVDIDYFMK	HSKDHTSTPN	P